{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10377587",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.10465C>T (p.Arg3489Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274527[alleleid]",
        "alleleId": 274527,
        "preferredName": "NM_004006.3(DMD):c.10465C>T (p.Arg3489Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290290",
        "RCV": [
          "RCV000322856",
          "RCV003512034"
        ],
        "variationId": 290290
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-31187648-G-A",
        "id": "X-31187648-G-A",
        "variant": "X:31187648 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31187648G>A?assembly=hg19",
        "id": "chrX:g.31187648G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31169531G>A?assembly=hg38",
        "id": "chrX:g.31169531G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/771240938",
        "rs": 771240938
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31187648-G-A?dataset=gnomad_r2_1",
        "id": "X-31187648-G-A",
        "variant": "X:31187648 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-31169531-G-A?dataset=gnomad_r4",
        "id": "X-31169531-G-A",
        "variant": "X:31169531 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31169531,
          "referenceAllele": "G",
          "start": 31169530
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31169531G>A",
        "CM000685.2:g.31169531G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31187648,
          "referenceAllele": "G",
          "start": 31187647
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31187648G>A",
        "CM000685.1:g.31187648G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31097569,
          "referenceAllele": "G",
          "start": 31097568
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31097569G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175079,
          "referenceAllele": "C",
          "start": 2175078
        }
      ],
      "hgvs": [
        "NG_012232.1:g.2175079C>T",
        "LRG_199:g.2175079C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5272,
          "referenceAllele": "C",
          "start": 5271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.5272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.3:p.Arg1758Cys",
        "hgvsWellDefined": "ENSP00000350765.3:p.Arg1758Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.2:c.1156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.2:p.Arg386Cys",
        "hgvsWellDefined": "ENSP00000506634.2:p.Arg386Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.2:p.Arg408Cys",
        "hgvsWellDefined": "ENSP00000506359.2:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681989.1:n.1263C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 585,
          "referenceAllele": "C",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682207.1:n.585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.2843+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:n.2843+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682322.1:c.1156C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507690.1:p.Arg386Cys",
        "hgvsWellDefined": "ENSP00000507690.1:p.Arg386Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682600.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507640.1:p.Arg408Cys",
        "hgvsWellDefined": "ENSP00000507640.1:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682769.1:n.1057C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683503.1:n.2280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1943,
          "referenceAllele": "C",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683509.1:n.1943C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683675.1:n.1564C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683709.1:n.1944C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3918,
          "referenceAllele": "C",
          "start": 3917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.3918C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683995.1:n.610C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "referenceAllele": "C",
          "start": 693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684072.1:n.694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.3046C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Arg1016Cys",
        "hgvsWellDefined": "ENSP00000508037.1:p.Arg1016Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1509,
          "referenceAllele": "C",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684342.1:n.1509C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829297"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2280,
          "referenceAllele": "C",
          "start": 2279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684350.1:n.2280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829305"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2522,
          "referenceAllele": "C",
          "start": 2521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.2320C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Arg774Cys",
        "hgvsWellDefined": "ENSP00000340057.4:p.Arg774Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10702,
          "referenceAllele": "C",
          "start": 10701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.10465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg3489Cys",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg3489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10465C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10465C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg3489Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg3489Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6613,
          "referenceAllele": "C",
          "start": 6612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.6433C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Arg2145Cys",
        "hgvsWellDefined": "ENSP00000479270.2:p.Arg2145Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.3046C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.2:p.Arg1016Cys",
        "hgvsWellDefined": "ENSP00000478150.2:p.Arg1016Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679437.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506629.1:p.Arg43Cys",
        "hgvsWellDefined": "ENSP00000506629.1:p.Arg43Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 986,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 986,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679641.1:c.*225+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506135.1:n.*225+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779269"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 180,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679706.1:c.180+9138C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5476,
          "referenceAllele": "C",
          "start": 5475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000679850.1:n.5476C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779472"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680162.1:c.1138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506634.1:p.Arg380Cys",
        "hgvsWellDefined": "ENSP00000506634.1:p.Arg380Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 1157,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680355.1:c.1019+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506257.1:n.1019+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 722,
          "endIntronDirection": "+",
          "endIntronOffset": 34430,
          "referenceAllele": "C",
          "start": 722,
          "startIntronDirection": "+",
          "startIntronOffset": 34429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680557.1:c.603+34430C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505164.1:n.603+34430C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680701.1:n.240C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1943,
          "referenceAllele": "C",
          "start": 1942
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680768.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506359.1:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000506359.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3920,
          "referenceAllele": "C",
          "start": 3919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.*428C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506386.1:n.*428C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681026.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506689.1:p.Arg43Cys",
        "hgvsWellDefined": "ENSP00000506689.1:p.Arg43Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681153.1:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505124.1:p.Arg408Cys",
        "hgvsWellDefined": "ENSP00000505124.1:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "referenceAllele": "C",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.3:p.Arg760Cys",
        "hgvsWellDefined": "ENSP00000340057.3:p.Arg760Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10672,
          "referenceAllele": "C",
          "start": 10671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.10465C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Arg3489Cys",
        "hgvsWellDefined": "ENSP00000354923.3:p.Arg3489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3514,
          "referenceAllele": "C",
          "start": 3513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.3514C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Arg1172Cys",
        "hgvsWellDefined": "ENSP00000350765.2:p.Arg1172Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.3046C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Arg1016Cys",
        "hgvsWellDefined": "ENSP00000352894.1:p.Arg1016Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000361471.8:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354464.4:p.Arg408Cys",
        "hgvsWellDefined": "ENSP00000354464.4:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10648,
          "referenceAllele": "C",
          "start": 10647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.10453C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Arg3485Cys",
        "hgvsWellDefined": "ENSP00000367948.2:p.Arg3485Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 1139,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378680.6:c.1019+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367951.2:n.1019+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1289,
          "referenceAllele": "C",
          "start": 1288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378702.8:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367974.4:p.Arg421Cys",
        "hgvsWellDefined": "ENSP00000367974.4:p.Arg421Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.3085C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Arg1029Cys",
        "hgvsWellDefined": "ENSP00000367979.3:p.Arg1029Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378723.7:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367997.3:p.Arg421Cys",
        "hgvsWellDefined": "ENSP00000367997.3:p.Arg421Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.3085C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Arg1029Cys",
        "hgvsWellDefined": "ENSP00000417123.1:p.Arg1029Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26,
          "referenceAllele": "C",
          "start": 25
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000481143.2:n.26C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.2843+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:n.2843+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10450,
          "referenceAllele": "C",
          "start": 10449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.10450C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Arg3484Cys",
        "hgvsWellDefined": "ENSP00000479270.1:p.Arg3484Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10462,
          "referenceAllele": "C",
          "start": 10461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.10462C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Arg3488Cys",
        "hgvsWellDefined": "ENSP00000478150.1:p.Arg3488Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10785,
          "referenceAllele": "C",
          "start": 10784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.10441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Arg3481Cys",
        "hgvsWellDefined": "NP_000100.2:p.Arg3481Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645484227",
      "coordinates": [
        {
          "allele": "T",
          "end": 10709,
          "referenceAllele": "C",
          "start": 10708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.10465C>T",
        "LRG_199t1:c.10465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Arg3489Cys",
        "hgvsWellDefined": "NP_003997.1:p.Arg3489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829494196",
      "coordinates": [
        {
          "allele": "T",
          "end": 10716,
          "referenceAllele": "C",
          "start": 10715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.10453C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Arg3485Cys",
        "hgvsWellDefined": "NP_004000.1:p.Arg3485Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829499255",
      "coordinates": [
        {
          "allele": "T",
          "end": 10799,
          "referenceAllele": "C",
          "start": 10798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.10096C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Arg3366Cys",
        "hgvsWellDefined": "NP_004001.1:p.Arg3366Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6487,
          "referenceAllele": "C",
          "start": 6486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.6442C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Arg2148Cys",
        "hgvsWellDefined": "NP_004002.2:p.Arg2148Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6630,
          "referenceAllele": "C",
          "start": 6629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.6433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Arg2145Cys",
        "hgvsWellDefined": "NP_004003.1:p.Arg2145Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.3085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Arg1029Cys",
        "hgvsWellDefined": "NP_004004.1:p.Arg1029Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916002293",
      "coordinates": [
        {
          "allele": "T",
          "end": 2339,
          "referenceAllele": "C",
          "start": 2338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Arg760Cys",
        "hgvsWellDefined": "NP_004005.1:p.Arg760Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506114",
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.2:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Arg421Cys",
        "hgvsWellDefined": "NP_004006.1:p.Arg421Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506652",
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.2:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Arg421Cys",
        "hgvsWellDefined": "NP_004007.1:p.Arg421Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507164",
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Arg408Cys",
        "hgvsWellDefined": "NP_004008.1:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507679",
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.2:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Arg408Cys",
        "hgvsWellDefined": "NP_004009.1:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.2843+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:n.2843+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.3085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Arg1029Cys",
        "hgvsWellDefined": "NP_004012.1:p.Arg1029Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.3046C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Arg1016Cys",
        "hgvsWellDefined": "NP_004013.1:p.Arg1016Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.2843+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:n.2843+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10662,
          "referenceAllele": "C",
          "start": 10661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.10465C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Arg3489Cys",
        "hgvsWellDefined": "XP_006724531.1:p.Arg3489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10544,
          "referenceAllele": "C",
          "start": 10543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.10441C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg3481Cys",
        "hgvsWellDefined": "XP_006724532.1:p.Arg3481Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10623,
          "referenceAllele": "C",
          "start": 10622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.10426C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg3476Cys",
        "hgvsWellDefined": "XP_006724533.1:p.Arg3476Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10557,
          "referenceAllele": "C",
          "start": 10556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.10360C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Arg3454Cys",
        "hgvsWellDefined": "XP_006724534.1:p.Arg3454Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10533,
          "referenceAllele": "C",
          "start": 10532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.10336C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Arg3446Cys",
        "hgvsWellDefined": "XP_006724535.1:p.Arg3446Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10524,
          "referenceAllele": "C",
          "start": 10523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.10327C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Arg3443Cys",
        "hgvsWellDefined": "XP_006724536.1:p.Arg3443Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10420,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 10420,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.10223+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.10223+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10420,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 10420,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.10223+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:n.10223+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10539,
          "referenceAllele": "C",
          "start": 10538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.10342C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Arg3448Cys",
        "hgvsWellDefined": "XP_011543769.1:p.Arg3448Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10636,
          "referenceAllele": "C",
          "start": 10635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.10441C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Arg3481Cys",
        "hgvsWellDefined": "XP_006724532.1:p.Arg3481Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10623,
          "referenceAllele": "C",
          "start": 10622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.10426C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Arg3476Cys",
        "hgvsWellDefined": "XP_006724533.1:p.Arg3476Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10420,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 10420,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.10223+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:n.10223+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10623,
          "referenceAllele": "C",
          "start": 10622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.10426C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Arg3476Cys",
        "hgvsWellDefined": "XP_016884817.1:p.Arg3476Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5238,
          "referenceAllele": "C",
          "start": 5237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.4639C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Arg1547Cys",
        "hgvsWellDefined": "XP_016884820.1:p.Arg1547Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825075006",
      "coordinates": [
        {
          "allele": "T",
          "end": 10564,
          "referenceAllele": "C",
          "start": 10563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.10441C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Arg3481Cys",
        "hgvsWellDefined": "NP_000100.3:p.Arg3481Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487835",
      "coordinates": [
        {
          "allele": "T",
          "end": 10702,
          "referenceAllele": "C",
          "start": 10701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.10465C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Arg3489Cys",
        "hgvsWellDefined": "NP_003997.2:p.Arg3489Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.10465C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.10465C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Arg3489Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Arg3489Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500998",
      "coordinates": [
        {
          "allele": "T",
          "end": 6461,
          "referenceAllele": "C",
          "start": 6460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.6442C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Arg2148Cys",
        "hgvsWellDefined": "NP_004002.3:p.Arg2148Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503588",
      "coordinates": [
        {
          "allele": "T",
          "end": 6604,
          "referenceAllele": "C",
          "start": 6603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.6433C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Arg2145Cys",
        "hgvsWellDefined": "NP_004003.2:p.Arg2145Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506114",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004015.3:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004006.1:p.Arg421Cys",
        "hgvsWellDefined": "NP_004006.1:p.Arg421Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696017"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829506652",
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004016.3:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004007.1:p.Arg421Cys",
        "hgvsWellDefined": "NP_004007.1:p.Arg421Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696018"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507164",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004017.3:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004008.1:p.Arg408Cys",
        "hgvsWellDefined": "NP_004008.1:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696019"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829507679",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004018.3:c.1222C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004009.1:p.Arg408Cys",
        "hgvsWellDefined": "NP_004009.1:p.Arg408Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829510276",
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.3085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Arg1029Cys",
        "hgvsWellDefined": "NP_004012.2:p.Arg1029Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.2843+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:n.2843+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504798",
      "coordinates": [
        {
          "allele": "T",
          "end": 4126,
          "referenceAllele": "C",
          "start": 4125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.3085C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Arg1029Cys",
        "hgvsWellDefined": "NP_004004.2:p.Arg1029Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084335",
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.2278C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Arg760Cys",
        "hgvsWellDefined": "NP_004005.2:p.Arg760Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3884,
          "endIntronDirection": "+",
          "endIntronOffset": 9138,
          "referenceAllele": "C",
          "start": 3884,
          "startIntronDirection": "+",
          "startIntronOffset": 9137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.2843+9138C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:n.2843+9138C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511457",
      "coordinates": [
        {
          "allele": "T",
          "end": 4087,
          "referenceAllele": "C",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.3046C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Arg1016Cys",
        "hgvsWellDefined": "NP_004013.2:p.Arg1016Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}