{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA412655284",
  "communityStandardTitle": [
    "NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1400307[alleleid]",
        "alleleId": 1400307,
        "preferredName": "NM_004006.3(DMD):c.8965A>T (p.Lys2989Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1448296",
        "RCV": [
          "RCV001997093",
          "RCV002307804"
        ],
        "variationId": 1448296
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31462717T>A?assembly=hg19",
        "id": "chrX:g.31462717T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.31444600T>A?assembly=hg38",
        "id": "chrX:g.31444600T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2065154326",
        "rs": 2065154326
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31444600,
          "referenceAllele": "T",
          "start": 31444599
        }
      ],
      "hgvs": [
        "NC_000023.11:g.31444600T>A",
        "CM000685.2:g.31444600T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31462717,
          "referenceAllele": "T",
          "start": 31462716
        }
      ],
      "hgvs": [
        "NC_000023.10:g.31462717T>A",
        "CM000685.1:g.31462717T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "A",
          "end": 31372638,
          "referenceAllele": "T",
          "start": 31372637
        }
      ],
      "hgvs": [
        "NC_000023.9:g.31372638T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900010,
          "referenceAllele": "A",
          "start": 1900009
        }
      ],
      "hgvs": [
        "NG_012232.1:g.1900010A>T",
        "LRG_199:g.1900010A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002304"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3811,
          "referenceAllele": "A",
          "start": 3810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.7:c.3811A>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000682238.1:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508124.1:p.Lys529Ter",
        "hgvsWellDefined": "ENSP00000508124.1:p.Lys529_Glu1133delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2430,
          "referenceAllele": "A",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683450.1:n.2430A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2457,
          "referenceAllele": "A",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000683957.1:n.2457A>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS828920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000684130.1:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508037.1:p.Lys529Ter",
        "hgvsWellDefined": "ENSP00000508037.1:p.Lys529_Met1212delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "A",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.7:c.820A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340057.4:p.Lys274Ter",
        "hgvsWellDefined": "ENSP00000340057.4:p.Lys274_Met970delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9202,
          "referenceAllele": "A",
          "start": 9201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.9:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Lys2989Ter",
        "hgvsWellDefined": "ENSP00000354923.3:p.Lys2989_Met3685delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748881",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8965A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8965A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Lys2989Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Lys2989Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5113,
          "referenceAllele": "A",
          "start": 5112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.5:c.4933A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.2:p.Lys1645Ter",
        "hgvsWellDefined": "ENSP00000479270.2:p.Lys1645_Met2341delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.5:c.1585A>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000478150.2:p.Lys529_Glu1154delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLysLysTyrProTrpLysAlaAsnGluArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
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      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000680961.1:c.1585A>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000506386.1:p.Lys529_Leu816delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheValGlnGluSerLysAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000681646.1:n.2626A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781252"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000343523.6:c.778A>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000340057.3:p.Lys260_Met956delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9172,
          "referenceAllele": "A",
          "start": 9171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000357033.8:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354923.3:p.Lys2989Ter",
        "hgvsWellDefined": "ENSP00000354923.3:p.Lys2989_Met3685delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2053,
          "referenceAllele": "A",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000358062.6:c.2053A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350765.2:p.Lys685Ter",
        "hgvsWellDefined": "ENSP00000350765.2:p.Lys685_Glu1386delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000359836.5:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000352894.1:p.Lys529Ter",
        "hgvsWellDefined": "ENSP00000352894.1:p.Lys529_Glu1230delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9148,
          "referenceAllele": "A",
          "start": 9147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378677.6:c.8953A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367948.2:p.Lys2985Ter",
        "hgvsWellDefined": "ENSP00000367948.2:p.Lys2985_Met3681delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000378707.7:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367979.3:p.Lys529Ter",
        "hgvsWellDefined": "ENSP00000367979.3:p.Lys529_Met1225delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000474231.5:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417123.1:p.Lys529Ter",
        "hgvsWellDefined": "ENSP00000417123.1:p.Lys529_Glu1243delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000541735.5:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444119.1:p.Lys529Ter",
        "hgvsWellDefined": "ENSP00000444119.1:p.Lys529_Met1115delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8950,
          "referenceAllele": "A",
          "start": 8949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000619831.4:c.8950A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479270.1:p.Lys2984Ter",
        "hgvsWellDefined": "ENSP00000479270.1:p.Lys2984_Met3680delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8962,
          "referenceAllele": "A",
          "start": 8961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "ENST00000620040.4:c.8962A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478150.1:p.Lys2988Ter",
        "hgvsWellDefined": "ENSP00000478150.1:p.Lys2988_Met3684delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9285,
          "referenceAllele": "A",
          "start": 9284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.3:c.8941A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.2:p.Lys2981Ter",
        "hgvsWellDefined": "NP_000100.2:p.Lys2981_Met3677delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9209,
          "referenceAllele": "A",
          "start": 9208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.2:c.8965A>T",
        "LRG_199t1:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.1:p.Lys2989Ter",
        "hgvsWellDefined": "NP_003997.1:p.Lys2989_Met3685delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029203"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829493642",
      "coordinates": [
        {
          "allele": "T",
          "end": 9216,
          "referenceAllele": "A",
          "start": 9215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004009.3:c.8953A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004000.1:p.Lys2985Ter",
        "hgvsWellDefined": "NP_004000.1:p.Lys2985_Met3681delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029204"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829498805",
      "coordinates": [
        {
          "allele": "T",
          "end": 9299,
          "referenceAllele": "A",
          "start": 9298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004010.3:c.8596A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004001.1:p.Lys2866Ter",
        "hgvsWellDefined": "NP_004001.1:p.Lys2866_Met3562delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4987,
          "referenceAllele": "A",
          "start": 4986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.3:c.4942A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.2:p.Lys1648Ter",
        "hgvsWellDefined": "NP_004002.2:p.Lys1648_Met2344delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5130,
          "referenceAllele": "A",
          "start": 5129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.3:c.4933A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.1:p.Lys1645Ter",
        "hgvsWellDefined": "NP_004003.1:p.Lys1645_Met2341delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029207"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.2:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.1:p.Lys529Ter",
        "hgvsWellDefined": "NP_004004.1:p.Lys529_Met1225delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 839,
          "referenceAllele": "A",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.2:c.778A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.1:p.Lys260Ter",
        "hgvsWellDefined": "NP_004005.1:p.Lys260_Met956delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029209"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.3:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.2:p.Lys529Ter",
        "hgvsWellDefined": "NP_004011.2:p.Lys529_Met1115delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.2:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.1:p.Lys529Ter",
        "hgvsWellDefined": "NP_004012.1:p.Lys529_Glu1243delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.2:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.1:p.Lys529Ter",
        "hgvsWellDefined": "NP_004013.1:p.Lys529_Glu1230delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.2:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.1:p.Lys529Ter",
        "hgvsWellDefined": "NP_004014.1:p.Lys529_Glu1133delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724468.2:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724531.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_006724531.1:p.Lys2989_Glu3703delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9044,
          "referenceAllele": "A",
          "start": 9043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.2:c.8941A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Lys2981Ter",
        "hgvsWellDefined": "XP_006724532.1:p.Lys2981_Glu3695delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.2:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_006724533.1:p.Lys2989_Glu3690delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724471.2:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724534.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_006724534.1:p.Lys2989_Glu3668delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9033,
          "referenceAllele": "A",
          "start": 9032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724472.2:c.8836A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724535.1:p.Lys2946Ter",
        "hgvsWellDefined": "XP_006724535.1:p.Lys2946_Glu3660delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9024,
          "referenceAllele": "A",
          "start": 9023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724473.2:c.8827A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Lys2943Ter",
        "hgvsWellDefined": "XP_006724536.1:p.Lys2943_Glu3657delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.2:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_006724537.1:p.Lys2989_Glu3593delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724475.2:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724538.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_006724538.1:p.Lys2989_Met3575delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9039,
          "referenceAllele": "A",
          "start": 9038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.8842A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Lys2948Ter",
        "hgvsWellDefined": "XP_011543769.1:p.Lys2948_Glu3662delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.1:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_011543770.1:p.Lys2989_Leu3295delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9136,
          "referenceAllele": "A",
          "start": 9135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.8941A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Lys2981Ter",
        "hgvsWellDefined": "XP_006724532.1:p.Lys2981_Glu3695delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_006724533.1:p.Lys2989_Glu3690delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_006724537.1:p.Lys2989_Glu3593delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_011543770.1:p.Lys2989_Leu3295delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9162,
          "referenceAllele": "A",
          "start": 9161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Lys2989Ter",
        "hgvsWellDefined": "XP_016884817.1:p.Lys2989_Met3672delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3738,
          "referenceAllele": "A",
          "start": 3737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029331.1:c.3139A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Lys1047Ter",
        "hgvsWellDefined": "XP_016884820.1:p.Lys1047_Glu1761delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825074556",
      "coordinates": [
        {
          "allele": "T",
          "end": 9064,
          "referenceAllele": "A",
          "start": 9063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.8941A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Lys2981Ter",
        "hgvsWellDefined": "NP_000100.3:p.Lys2981_Met3677delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829487087",
      "coordinates": [
        {
          "allele": "T",
          "end": 9202,
          "referenceAllele": "A",
          "start": 9201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.8965A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Lys2989Ter",
        "hgvsWellDefined": "NP_003997.2:p.Lys2989_Met3685delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.8965A>T"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.8965A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Lys2989Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Lys2989Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829500547",
      "coordinates": [
        {
          "allele": "T",
          "end": 4961,
          "referenceAllele": "A",
          "start": 4960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004011.4:c.4942A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004002.3:p.Lys1648Ter",
        "hgvsWellDefined": "NP_004002.3:p.Lys1648_Met2344delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829503138",
      "coordinates": [
        {
          "allele": "T",
          "end": 5104,
          "referenceAllele": "A",
          "start": 5103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.4933A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Lys1645Ter",
        "hgvsWellDefined": "NP_004003.2:p.Lys1645_Met2341delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829509853",
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Lys529Ter",
        "hgvsWellDefined": "NP_004012.2:p.Lys529_Glu1243delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573231659",
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Lys529Ter",
        "hgvsWellDefined": "NP_004014.2:p.Lys529_Glu1133delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829504347",
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Lys529Ter",
        "hgvsWellDefined": "NP_004004.2:p.Lys529_Met1225delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829505210",
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004014.3:c.778A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004005.2:p.Lys260Ter",
        "hgvsWellDefined": "NP_004005.2:p.Lys260_Met956delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProValThrLeuIleAsnPheTrpProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508723",
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Lys529Ter",
        "hgvsWellDefined": "NP_004011.3:p.Lys529_Met1115delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511034",
      "coordinates": [
        {
          "allele": "T",
          "end": 2626,
          "referenceAllele": "A",
          "start": 2625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.1585A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Lys529Ter",
        "hgvsWellDefined": "NP_004013.2:p.Lys529_Glu1230delinsGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}