{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375311567",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=458491[alleleid]",
        "alleleId": 458491,
        "preferredName": "NM_001077365.2(POMT1):c.1361T>G (p.Leu454Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471374",
        "RCV": [
          "RCV000548536",
          "RCV003476298"
        ],
        "variationId": 471374
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134393920T>G?assembly=hg19",
        "id": "chr9:g.134393920T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131518533T>G?assembly=hg38",
        "id": "chr9:g.131518533T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554780670",
        "rs": 1554780670
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 131518533,
          "referenceAllele": "T",
          "start": 131518532
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131518533T>G",
        "CM000671.2:g.131518533T>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134393920,
          "referenceAllele": "T",
          "start": 134393919
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134393920T>G",
        "CM000671.1:g.134393920T>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133383741,
          "referenceAllele": "T",
          "start": 133383740
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133383741T>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20632,
          "referenceAllele": "T",
          "start": 20631
        }
      ],
      "hgvs": [
        "NG_008896.1:g.20632T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20632,
          "referenceAllele": "T",
          "start": 20631
        }
      ],
      "hgvs": [
        "NG_008896.2:g.20632T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu400Ter",
        "hgvsWellDefined": "ENSP00000343034.7:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1901,
          "referenceAllele": "T",
          "start": 1900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.1901T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1418,
          "referenceAllele": "T",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.1418T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Leu473Ter",
        "hgvsWellDefined": "ENSP00000404119.2:p.Leu473_His744delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1925,
          "referenceAllele": "T",
          "start": 1924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*1705T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*1705T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2451,
          "referenceAllele": "T",
          "start": 2450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*1544T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*1544T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "referenceAllele": "T",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.1826T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 133,
          "referenceAllele": "T",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682535.1:n.133T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827525"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 299,
          "referenceAllele": "T",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682539.1:c.299T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827529"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1626,
          "referenceAllele": "T",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.1626T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 89,
          "referenceAllele": "T",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683110.1:n.89T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4108,
          "referenceAllele": "T",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.4108T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.1766T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3261,
          "referenceAllele": "T",
          "start": 3260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.3261T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2027,
          "referenceAllele": "T",
          "start": 2026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.2027T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3207,
          "referenceAllele": "T",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.3207T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 588,
          "referenceAllele": "T",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684679.1:n.588T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829630"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1397,
          "referenceAllele": "T",
          "start": 1396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu400Ter",
        "hgvsWellDefined": "ENSP00000343034.7:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "T",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.230T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:p.Leu77Ter",
        "hgvsWellDefined": "ENSP00000361294.5:p.Leu77_His348delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1742,
          "referenceAllele": "T",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Leu476Ter",
        "hgvsWellDefined": "ENSP00000361302.3:p.Leu476_His747delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "T",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Leu454Ter",
        "hgvsWellDefined": "ENSP00000385797.4:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1361T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1361T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Leu454Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Leu454Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1799,
          "referenceAllele": "T",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Leu454Ter",
        "hgvsWellDefined": "ENSP00000503281.1:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "T",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.536T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:p.Leu179Ter",
        "hgvsWellDefined": "ENSP00000503093.1:p.Leu179_His412delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1096,
          "referenceAllele": "T",
          "start": 1095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.*576T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:n.*576T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.905T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Leu302Ter",
        "hgvsWellDefined": "ENSP00000502936.1:p.Leu302_His573delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1295,
          "referenceAllele": "T",
          "start": 1294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*1071T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*1071T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Leu337Ter",
        "hgvsWellDefined": "ENSP00000503772.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 386,
          "referenceAllele": "T",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677221.1:n.386T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776884"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1826,
          "referenceAllele": "T",
          "start": 1825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.*738T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:n.*738T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1167,
          "referenceAllele": "T",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.1167T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "T",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.842T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1176,
          "referenceAllele": "T",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Leu337Ter",
        "hgvsWellDefined": "ENSP00000503552.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1321,
          "referenceAllele": "T",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677677.1:n.1321T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1126,
          "referenceAllele": "T",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.*369T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:n.*369T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 450,
          "referenceAllele": "T",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677983.1:n.450T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "T",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678202.1:n.381T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "T",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.*738T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:n.*738T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "referenceAllele": "T",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.1271T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Leu424Ter",
        "hgvsWellDefined": "ENSP00000503696.1:p.Leu424_His695delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2074,
          "referenceAllele": "T",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*1610T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*1610T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2194,
          "referenceAllele": "T",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.*1306T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:n.*1306T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1784,
          "referenceAllele": "T",
          "start": 1783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*1433T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*1433T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1058,
          "referenceAllele": "T",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.1058T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "referenceAllele": "T",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678733.1:c.442T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1978,
          "referenceAllele": "T",
          "start": 1977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*1687T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*1687T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678795.1:n.448T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1423,
          "referenceAllele": "T",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.*808T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.*808T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "T",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678942.1:c.541T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504690.1:n.541T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1369,
          "referenceAllele": "T",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Leu400Ter",
        "hgvsWellDefined": "ENSP00000503718.1:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 980,
          "referenceAllele": "T",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.980T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:p.Leu454Ter",
        "hgvsWellDefined": "ENSP00000504257.1:p.Leu454_Met460delinsLysAspGlyIleProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Leu337Ter",
        "hgvsWellDefined": "ENSP00000503356.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "T",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu400Ter",
        "hgvsWellDefined": "ENSP00000343034.7:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 224,
          "referenceAllele": "T",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.4:c.224T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.4:p.Leu75Ter",
        "hgvsWellDefined": "ENSP00000361294.4:p.Leu75_His346delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1606,
          "referenceAllele": "T",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Leu476Ter",
        "hgvsWellDefined": "ENSP00000361302.3:p.Leu476_His747delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1521,
          "referenceAllele": "T",
          "start": 1520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Leu454Ter",
        "hgvsWellDefined": "ENSP00000385797.3:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "T",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Leu337Ter",
        "hgvsWellDefined": "ENSP00000384531.2:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1803,
          "referenceAllele": "T",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Leu454Ter",
        "hgvsWellDefined": "ENSP00000404119.1:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1916,
          "referenceAllele": "T",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000485278.5:n.1916T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445716",
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "T",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Leu454Ter",
        "hgvsWellDefined": "NP_001070833.1:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446853",
      "coordinates": [
        {
          "allele": "G",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Leu400Ter",
        "hgvsWellDefined": "NP_001070834.1:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815640",
      "coordinates": [
        {
          "allele": "G",
          "end": 1803,
          "referenceAllele": "T",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Leu454Ter",
        "hgvsWellDefined": "NP_001129585.1:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816736",
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "T",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001129586.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662165",
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Leu476Ter",
        "hgvsWellDefined": "NP_009102.3:p.Leu476_His747delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1755,
          "referenceAllele": "T",
          "start": 1754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Leu476Ter",
        "hgvsWellDefined": "XP_005272213.1:p.Leu476_His747delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1484,
          "referenceAllele": "T",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.1265T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Leu422Ter",
        "hgvsWellDefined": "XP_005272215.1:p.Leu422_His693delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1374,
          "referenceAllele": "T",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.1076T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Leu359Ter",
        "hgvsWellDefined": "XP_005272216.1:p.Leu359_His630delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1759,
          "referenceAllele": "T",
          "start": 1758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.230T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Leu77Ter",
        "hgvsWellDefined": "XP_005272219.1:p.Leu77_His348delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.1076T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Leu359Ter",
        "hgvsWellDefined": "XP_006716995.1:p.Leu359_His630delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.1280T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Leu427Ter",
        "hgvsWellDefined": "XP_011516442.1:p.Leu427_His698delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "T",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.1214T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Leu405Ter",
        "hgvsWellDefined": "XP_011516443.1:p.Leu405_His676delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "referenceAllele": "T",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.1118T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Leu373Ter",
        "hgvsWellDefined": "XP_011516444.1:p.Leu373_His644delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.1112T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Leu371Ter",
        "hgvsWellDefined": "XP_011516445.1:p.Leu371_His642delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "T",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518144.1:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516446.1:p.Leu476Ter",
        "hgvsWellDefined": "XP_011516446.1:p.Leu476_Met482delinsLysAspGlyIleProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "referenceAllele": "T",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.971T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Leu324Ter",
        "hgvsWellDefined": "XP_011516447.1:p.Leu324_His595delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518146.1:c.1112T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516448.1:p.Leu371Ter",
        "hgvsWellDefined": "XP_011516448.1:p.Leu371_Met377delinsLysAspGlyIleProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "T",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518147.1:c.299T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516449.1:p.Leu100Ter",
        "hgvsWellDefined": "XP_011516449.1:p.Leu100_His371delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "referenceAllele": "T",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.1603T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1869,
          "referenceAllele": "T",
          "start": 1868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Leu476Ter",
        "hgvsWellDefined": "NP_001340122.1:p.Leu476_His747delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713701",
      "coordinates": [
        {
          "allele": "G",
          "end": 1651,
          "referenceAllele": "T",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Leu400Ter",
        "hgvsWellDefined": "NP_001340123.1:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714232",
      "coordinates": [
        {
          "allele": "G",
          "end": 1456,
          "referenceAllele": "T",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001340124.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714806",
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "T",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.1271T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Leu424Ter",
        "hgvsWellDefined": "NP_001340125.1:p.Leu424_His695delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "T",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.1265T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Leu422Ter",
        "hgvsWellDefined": "NP_001340126.1:p.Leu422_His693delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2178,
          "referenceAllele": "T",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.1265T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Leu422Ter",
        "hgvsWellDefined": "NP_001340127.1:p.Leu422_His693delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1370,
          "referenceAllele": "T",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.1076T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Leu359Ter",
        "hgvsWellDefined": "NP_001340128.1:p.Leu359_His630delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717029",
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "T",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.905T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Leu302Ter",
        "hgvsWellDefined": "NP_001340129.1:p.Leu302_His573delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.1411T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "T",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.1629T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1411,
          "referenceAllele": "T",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.1411T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1304,
          "referenceAllele": "T",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.1304T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1563,
          "referenceAllele": "T",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.1563T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1197,
          "referenceAllele": "T",
          "start": 1196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.1197T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1461,
          "referenceAllele": "T",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.1461T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "T",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.1416T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1803,
          "referenceAllele": "T",
          "start": 1802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.1803T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1402,
          "referenceAllele": "T",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.1402T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1797,
          "referenceAllele": "T",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.230T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Leu77Ter",
        "hgvsWellDefined": "XP_005272219.1:p.Leu77_His348delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1407,
          "referenceAllele": "T",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.1076T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Leu359Ter",
        "hgvsWellDefined": "XP_006716995.1:p.Leu359_His630delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "T",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.1280T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Leu427Ter",
        "hgvsWellDefined": "XP_011516442.1:p.Leu427_His698delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1416,
          "referenceAllele": "T",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.1214T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Leu405Ter",
        "hgvsWellDefined": "XP_011516443.1:p.Leu405_His676delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1284,
          "referenceAllele": "T",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.1118T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Leu373Ter",
        "hgvsWellDefined": "XP_011516444.1:p.Leu373_His644delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.1112T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Leu371Ter",
        "hgvsWellDefined": "XP_011516445.1:p.Leu371_His642delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1150,
          "referenceAllele": "T",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.971T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Leu324Ter",
        "hgvsWellDefined": "XP_011516447.1:p.Leu324_His595delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1556,
          "referenceAllele": "T",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.230T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:p.Leu77Ter",
        "hgvsWellDefined": "XP_016869694.1:p.Leu77_His348delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1139,
          "referenceAllele": "T",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.230T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:p.Leu77Ter",
        "hgvsWellDefined": "XP_024303148.1:p.Leu77_His348delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1632,
          "referenceAllele": "T",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.536T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:p.Leu179Ter",
        "hgvsWellDefined": "XP_024303149.1:p.Leu179_His450delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3195,
          "referenceAllele": "T",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.230T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:p.Leu77Ter",
        "hgvsWellDefined": "XP_024303150.1:p.Leu77_His348delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1531,
          "referenceAllele": "T",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.1531T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1597,
          "referenceAllele": "T",
          "start": 1596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.1597T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.1314T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1748,
          "referenceAllele": "T",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.1748T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445716",
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "T",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Leu454Ter",
        "hgvsWellDefined": "NP_001070833.1:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1361T>G"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1361T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Leu454Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Leu454Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446853",
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "T",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Leu400Ter",
        "hgvsWellDefined": "NP_001070834.1:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815640",
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Leu454Ter",
        "hgvsWellDefined": "NP_001129585.1:p.Leu454_His725delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816736",
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001129586.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713122",
      "coordinates": [
        {
          "allele": "G",
          "end": 1853,
          "referenceAllele": "T",
          "start": 1852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Leu476Ter",
        "hgvsWellDefined": "NP_001340122.2:p.Leu476_His747delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713701",
      "coordinates": [
        {
          "allele": "G",
          "end": 1635,
          "referenceAllele": "T",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.1199T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Leu400Ter",
        "hgvsWellDefined": "NP_001340123.1:p.Leu400_His671delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714232",
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "T",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001340124.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714806",
      "coordinates": [
        {
          "allele": "G",
          "end": 1457,
          "referenceAllele": "T",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.1271T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Leu424Ter",
        "hgvsWellDefined": "NP_001340125.1:p.Leu424_His695delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715406",
      "coordinates": [
        {
          "allele": "G",
          "end": 1461,
          "referenceAllele": "T",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.1265T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Leu422Ter",
        "hgvsWellDefined": "NP_001340126.2:p.Leu422_His693delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715996",
      "coordinates": [
        {
          "allele": "G",
          "end": 2162,
          "referenceAllele": "T",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.1265T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Leu422Ter",
        "hgvsWellDefined": "NP_001340127.2:p.Leu422_His693delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716537",
      "coordinates": [
        {
          "allele": "G",
          "end": 1354,
          "referenceAllele": "T",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.1076T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Leu359Ter",
        "hgvsWellDefined": "NP_001340128.2:p.Leu359_His630delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717029",
      "coordinates": [
        {
          "allele": "G",
          "end": 1141,
          "referenceAllele": "T",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.905T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Leu302Ter",
        "hgvsWellDefined": "NP_001340129.1:p.Leu302_His573delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828535858",
      "coordinates": [
        {
          "allele": "G",
          "end": 1545,
          "referenceAllele": "T",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.1349T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Leu450Ter",
        "hgvsWellDefined": "NP_001361618.1:p.Leu450_His721delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536476",
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "T",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.1361T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Leu454Ter",
        "hgvsWellDefined": "NP_001361619.1:p.Leu454_His652delinsLysTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536924",
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "T",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001361620.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537425",
      "coordinates": [
        {
          "allele": "G",
          "end": 1389,
          "referenceAllele": "T",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001361621.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537929",
      "coordinates": [
        {
          "allele": "G",
          "end": 1206,
          "referenceAllele": "T",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.1010T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Leu337Ter",
        "hgvsWellDefined": "NP_001361622.1:p.Leu337_His608delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538430",
      "coordinates": [
        {
          "allele": "G",
          "end": 1308,
          "referenceAllele": "T",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.971T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Leu324Ter",
        "hgvsWellDefined": "NP_001361624.1:p.Leu324_His595delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139722769",
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "T",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.1427T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Leu476Ter",
        "hgvsWellDefined": "NP_009102.4:p.Leu476_His747delinsLysLeuSerGlyAlaHisLeuProAspTrpGlyTyrArgGlnLeuGluIleValGlyGluLysLeuSerArgGlyTyrHisGlySerThrValTrpAsnValGluGluHisArgTyrGlyAlaSerGlnGluGlnArgGluArgGluArgGluLeuHisSerProAlaGlnValAspValSerArgAsnLeuSerPheMetAlaArgPheSerGluLeuGlnTrpArgMetLeuAlaLeuArgSerAspAspSerGluHisLysTyrSerSerSerProLeuGluTrpValThrLeuAspThrAsnIleAlaTyrTrpLeuHisProArgThrSerAlaGlnIleHisLeuLeuGlyAsnIleValIleTrpValSerGlySerLeuAlaLeuAlaIleTyrAlaLeuLeuSerLeuTrpTyrLeuLeuArgArgArgArgAsnValHisAspLeuProGlnAspAlaTrpLeuArgTrpValLeuAlaGlyAlaLeuCysAlaGlyGlyTrpAlaValAsnTyrLeuProPhePheLeuMetGluLysThrLeuPheLeuTyrHisTyrLeuProAlaLeuThrPheGlnIleLeuLeuLeuProValValLeuGlnHisIleSerAspHisLeuCysArgSerGlnLeuGlnArgSerIlePheSerAlaLeuValValAlaTrpTyrSerSerAlaCysHisValSerAsnThrLeuArgProLeuThrTyrGlyAspLysSerLeuSerProHisGluLeuLysAlaLeuArgTrpLysAspSerTrpAspIleLeuIleArgLysHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "T",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.1395T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1613,
          "referenceAllele": "T",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.1613T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1395,
          "referenceAllele": "T",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.1395T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.1288T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "T",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.1547T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1181,
          "referenceAllele": "T",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.1181T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1445,
          "referenceAllele": "T",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.1445T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1400,
          "referenceAllele": "T",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.1400T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "T",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.1787T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1386,
          "referenceAllele": "T",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.1386T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}