{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5293810",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490620[alleleid]",
        "alleleId": 490620,
        "preferredName": "NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/499196",
        "RCV": [
          "RCV000594345",
          "RCV001459502",
          "RCV004543349"
        ],
        "variationId": 499196
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-134396780-C-T",
        "id": "9-134396780-C-T",
        "variant": "9:134396780 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134396780C>T?assembly=hg19",
        "id": "chr9:g.134396780C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131521393C>T?assembly=hg38",
        "id": "chr9:g.131521393C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376373313",
        "rs": 376373313
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134396780-C-T?dataset=gnomad_r2_1",
        "id": "9-134396780-C-T",
        "variant": "9:134396780 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131521393-C-T?dataset=gnomad_r3",
        "id": "9-131521393-C-T",
        "variant": "9:131521393 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131521393-C-T?dataset=gnomad_r4",
        "id": "9-131521393-C-T",
        "variant": "9:131521393 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 131521393,
          "referenceAllele": "C",
          "start": 131521392
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131521393C>T",
        "CM000671.2:g.131521393C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134396780,
          "referenceAllele": "C",
          "start": 134396779
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134396780C>T",
        "CM000671.1:g.134396780C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133386601,
          "referenceAllele": "C",
          "start": 133386600
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133386601C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23492,
          "referenceAllele": "C",
          "start": 23491
        }
      ],
      "hgvs": [
        "NG_008896.1:g.23492C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23492,
          "referenceAllele": "C",
          "start": 23491
        }
      ],
      "hgvs": [
        "NG_008896.2:g.23492C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2286,
          "referenceAllele": "C",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.2286C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1803,
          "referenceAllele": "C",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.1803C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Ser601="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2310,
          "referenceAllele": "C",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*2090C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*2090C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2836,
          "referenceAllele": "C",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*1929C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*1929C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.2211C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.2150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4493,
          "referenceAllele": "C",
          "start": 4492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.4493C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "referenceAllele": "C",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.2151C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3646,
          "referenceAllele": "C",
          "start": 3645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.3646C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2412,
          "referenceAllele": "C",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.2412C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3592,
          "referenceAllele": "C",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.3592C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684679.1:n.973C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:p.Ser205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Ser604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1746C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1746C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Ser582="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Ser582="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1063,
          "referenceAllele": "C",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.807C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:p.Ser269="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1481,
          "referenceAllele": "C",
          "start": 1480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.*961C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:n.*961C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Ser430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1680,
          "referenceAllele": "C",
          "start": 1679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*1456C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*1456C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 771,
          "referenceAllele": "C",
          "start": 770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677221.1:n.771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.*1123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:n.*1123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1691,
          "referenceAllele": "C",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.1691C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1113,
          "referenceAllele": "C",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.1113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.*754C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:n.*754C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678202.1:n.905C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2151,
          "referenceAllele": "C",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.*1123C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:n.*1123C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1812,
          "referenceAllele": "C",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.1656C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Ser552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2459,
          "referenceAllele": "C",
          "start": 2458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*1995C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*1995C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2579,
          "referenceAllele": "C",
          "start": 2578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.*1691C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:n.*1691C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2169,
          "referenceAllele": "C",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*1818C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*1818C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.1582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*2067C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*2067C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.*1498C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.*1498C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1754,
          "referenceAllele": "C",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1365,
          "referenceAllele": "C",
          "start": 1364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.1365C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.*502C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:n.*502C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "referenceAllele": "C",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.4:c.609C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.4:p.Ser203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1991,
          "referenceAllele": "C",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Ser604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000467848.1:n.450C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2296,
          "referenceAllele": "C",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000485278.5:n.2296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000494883.1:n.289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445964",
      "coordinates": [
        {
          "allele": "T",
          "end": 1948,
          "referenceAllele": "C",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447150",
      "coordinates": [
        {
          "allele": "T",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815895",
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817006",
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Ser604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2140,
          "referenceAllele": "C",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Ser604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1869,
          "referenceAllele": "C",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.1650C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Ser550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "referenceAllele": "C",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.1461C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Ser487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Ser205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "C",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.1461C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Ser487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.1665C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Ser555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.1599C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Ser533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.1503C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Ser501="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.1497C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Ser499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Ser452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518147.1:c.684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516449.1:p.Ser228="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.1988C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Ser604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713831",
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714363",
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714937",
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "C",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.1656C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Ser552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1862,
          "referenceAllele": "C",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.1650C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Ser550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2563,
          "referenceAllele": "C",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.1650C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Ser550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1755,
          "referenceAllele": "C",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.1461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Ser487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717160",
      "coordinates": [
        {
          "allele": "T",
          "end": 1542,
          "referenceAllele": "C",
          "start": 1541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Ser430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1796,
          "referenceAllele": "C",
          "start": 1795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.1796C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.2014C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.1935C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.1689C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.2087C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1721,
          "referenceAllele": "C",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.1721C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.1846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.1801C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "C",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.2327C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "referenceAllele": "C",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.1926C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Ser205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1792,
          "referenceAllele": "C",
          "start": 1791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.1461C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Ser487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.1665C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Ser555="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.1599C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Ser533="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1669,
          "referenceAllele": "C",
          "start": 1668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.1503C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Ser501="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.1497C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Ser499="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Ser452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:p.Ser205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:p.Ser205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:p.Ser307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3580,
          "referenceAllele": "C",
          "start": 3579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:p.Ser205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.1916C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2121,
          "referenceAllele": "C",
          "start": 2120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.2121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "C",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.1838C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.2133C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445964",
      "coordinates": [
        {
          "allele": "T",
          "end": 1932,
          "referenceAllele": "C",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1746C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1746C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Ser582="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Ser582="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447150",
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815895",
      "coordinates": [
        {
          "allele": "T",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.1746C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Ser582="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817006",
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713253",
      "coordinates": [
        {
          "allele": "T",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Ser604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713831",
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.1584C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Ser528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714363",
      "coordinates": [
        {
          "allele": "T",
          "end": 1825,
          "referenceAllele": "C",
          "start": 1824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714937",
      "coordinates": [
        {
          "allele": "T",
          "end": 1842,
          "referenceAllele": "C",
          "start": 1841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.1656C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Ser552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715536",
      "coordinates": [
        {
          "allele": "T",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.1650C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Ser550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716127",
      "coordinates": [
        {
          "allele": "T",
          "end": 2547,
          "referenceAllele": "C",
          "start": 2546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.1650C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Ser550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716668",
      "coordinates": [
        {
          "allele": "T",
          "end": 1739,
          "referenceAllele": "C",
          "start": 1738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.1461C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Ser487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717160",
      "coordinates": [
        {
          "allele": "T",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.1290C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Ser430="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828535989",
      "coordinates": [
        {
          "allele": "T",
          "end": 1930,
          "referenceAllele": "C",
          "start": 1929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.1734C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Ser578="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536524",
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.1527C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Ser509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537055",
      "coordinates": [
        {
          "allele": "T",
          "end": 1862,
          "referenceAllele": "C",
          "start": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537555",
      "coordinates": [
        {
          "allele": "T",
          "end": 1774,
          "referenceAllele": "C",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538059",
      "coordinates": [
        {
          "allele": "T",
          "end": 1591,
          "referenceAllele": "C",
          "start": 1590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.1395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Ser465="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538560",
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.1356C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Ser452="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829695083",
      "coordinates": [
        {
          "allele": "T",
          "end": 1998,
          "referenceAllele": "C",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.1812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Ser604="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1780,
          "referenceAllele": "C",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.1780C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1998,
          "referenceAllele": "C",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.1998C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.1919C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.1673C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2071,
          "referenceAllele": "C",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.2071C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.1705C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1830,
          "referenceAllele": "C",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.1830C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.1785C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.2311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.1910C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}