{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA351213744",
  "communityStandardTitle": [
    "NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=421373[alleleid]",
        "alleleId": 421373,
        "preferredName": "NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/429825",
        "RCV": [
          "RCV000493437",
          "RCV001389456"
        ],
        "variationId": 429825
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.238263565G>A?assembly=hg19",
        "id": "chr2:g.238263565G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.237354922G>A?assembly=hg38",
        "id": "chr2:g.237354922G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774115247",
        "rs": 774115247
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-237354922-G-A?dataset=gnomad_r3",
        "id": "2-237354922-G-A",
        "variant": "2:237354922 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-237354922-G-A?dataset=gnomad_r4",
        "id": "2-237354922-G-A",
        "variant": "2:237354922 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 237354922,
          "referenceAllele": "G",
          "start": 237354921
        }
      ],
      "hgvs": [
        "NC_000002.12:g.237354922G>A",
        "CM000664.2:g.237354922G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 238263565,
          "referenceAllele": "G",
          "start": 238263564
        }
      ],
      "hgvs": [
        "NC_000002.11:g.238263565G>A",
        "CM000664.1:g.238263565G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 237928304,
          "referenceAllele": "G",
          "start": 237928303
        }
      ],
      "hgvs": [
        "NC_000002.10:g.237928304G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64286,
          "referenceAllele": "C",
          "start": 64285
        }
      ],
      "hgvs": [
        "NG_008676.1:g.64286C>T",
        "LRG_473:g.64286C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001161"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6236,
          "referenceAllele": "C",
          "start": 6235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.9:c.5986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Arg1996Ter",
        "hgvsWellDefined": "ENSP00000315873.4:p.Arg1997_Thr2971delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6846,
          "referenceAllele": "C",
          "start": 6845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.9:c.6604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Arg2202Ter",
        "hgvsWellDefined": "ENSP00000295550.4:p.Arg2203_Thr3177delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744301",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.6604C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.6604C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Arg2202Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Arg2202Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7057,
          "referenceAllele": "C",
          "start": 7056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000295550.8:c.6604C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000295550.4:p.Arg2202Ter",
        "hgvsWellDefined": "ENSP00000295550.4:p.Arg2203_Thr3177delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5009,
          "referenceAllele": "C",
          "start": 5008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000347401.7:c.4783C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315609.4:p.Arg1595Ter",
        "hgvsWellDefined": "ENSP00000315609.4:p.Arg1596_Thr2569delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProPheHisGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6271,
          "referenceAllele": "C",
          "start": 6270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000353578.8:c.5986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315873.4:p.Arg1996Ter",
        "hgvsWellDefined": "ENSP00000315873.4:p.Arg1997_Thr2971delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5986,
          "referenceAllele": "C",
          "start": 5985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000409809.5:c.5986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386844.1:p.Arg1996Ter",
        "hgvsWellDefined": "ENSP00000386844.1:p.Arg1997_Thr2971delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5009,
          "referenceAllele": "C",
          "start": 5008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000472056.5:c.4783C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418285.1:p.Arg1595Ter",
        "hgvsWellDefined": "ENSP00000418285.1:p.Arg1596_Thr2570delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS314119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "ENST00000491769.1:n.858C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645455434",
      "coordinates": [
        {
          "allele": "T",
          "end": 6889,
          "referenceAllele": "C",
          "start": 6888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.3:c.6604C>T",
        "LRG_473t1:c.6604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Arg2202Ter",
        "hgvsWellDefined": "NP_004360.2:p.Arg2203_Thr3177delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830147912",
      "coordinates": [
        {
          "allele": "T",
          "end": 5068,
          "referenceAllele": "C",
          "start": 5067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.4:c.4783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Arg1595Ter",
        "hgvsWellDefined": "NP_476507.3:p.Arg1596_Thr2570delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830150194",
      "coordinates": [
        {
          "allele": "T",
          "end": 6271,
          "referenceAllele": "C",
          "start": 6270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.3:c.5986C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Arg1996Ter",
        "hgvsWellDefined": "NP_476508.2:p.Arg1997_Thr2971delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6246,
          "referenceAllele": "C",
          "start": 6245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246065.1:c.6004C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246122.1:p.Arg2002Ter",
        "hgvsWellDefined": "XP_005246122.1:p.Arg2003_Thr2977delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5392,
          "referenceAllele": "C",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_005246066.1:c.5383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246123.1:p.Arg1795Ter",
        "hgvsWellDefined": "XP_005246123.1:p.Arg1796_Thr2770delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6345,
          "referenceAllele": "C",
          "start": 6344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_006712253.1:c.6103C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712316.1:p.Arg2035Ter",
        "hgvsWellDefined": "XP_006712316.1:p.Arg2036_Thr3010delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6843,
          "referenceAllele": "C",
          "start": 6842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510574.1:c.6601C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508876.1:p.Arg2201Ter",
        "hgvsWellDefined": "XP_011508876.1:p.Arg2202_Thr3176delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4646,
          "referenceAllele": "C",
          "start": 4645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_011510575.1:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508877.1:p.Arg1400Ter",
        "hgvsWellDefined": "XP_011508877.1:p.Arg1401_Thr2375delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5108,
          "referenceAllele": "C",
          "start": 5107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_017003304.1:c.4198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016858793.1:p.Arg1400Ter",
        "hgvsWellDefined": "XP_016858793.1:p.Arg1401_Thr2375delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5594,
          "referenceAllele": "C",
          "start": 5593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "XM_024452684.1:c.5383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308452.1:p.Arg1795Ter",
        "hgvsWellDefined": "XP_024308452.1:p.Arg1796_Thr2770delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645455434",
      "coordinates": [
        {
          "allele": "T",
          "end": 6846,
          "referenceAllele": "C",
          "start": 6845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_004369.4:c.6604C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004360.2:p.Arg2202Ter",
        "hgvsWellDefined": "NP_004360.2:p.Arg2203_Thr3177delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696119",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295550.9:c.6604C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004369.4:c.6604C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295550.4:p.Arg2202Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004360.2:p.Arg2202Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830147912",
      "coordinates": [
        {
          "allele": "T",
          "end": 5025,
          "referenceAllele": "C",
          "start": 5024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057166.5:c.4783C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_476507.3:p.Arg1595Ter",
        "hgvsWellDefined": "NP_476507.3:p.Arg1596_Thr2570delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830150194",
      "coordinates": [
        {
          "allele": "T",
          "end": 6228,
          "referenceAllele": "C",
          "start": 6227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002213",
      "geneNCBI_id": 1293,
      "geneSymbol": "COL6A3",
      "hgvs": [
        "NM_057167.4:c.5986C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_476508.2:p.Arg1996Ter",
        "hgvsWellDefined": "NP_476508.2:p.Arg1997_Thr2971delinsGlyProProGlyAlaLysGlyAsnLysGlyGlyProGlyGlnProGlyPheGluGlyGluGlnGlyThrArgGlyAlaGlnGlyProAlaGlyProAlaGlyProProGlyLeuIleGlyGluGlnGlyIleSerGlyProArgGlySerGlyGlyAlaAlaGlyAlaProGlyGluArgGlyArgThrGlyProLeuGlyArgLysGlyGluProGlyGluProGlyProLysGlyGlyIleGlyAsnArgGlyProArgGlyGluThrGlyAspAspGlyArgAspGlyValGlySerGluGlyArgArgGlyLysLysGlyGluArgGlyPheProGlyTyrProGlyProLysGlyAsnProGlyGluProGlyLeuAsnGlyThrThrGlyProLysGlyIleArgGlyArgArgGlyAsnSerGlyProProGlyIleValGlyGlnLysGlyAspProGlyTyrProGlyProAlaGlyProLysGlyAsnArgGlyAspSerIleAspGlnCysAlaLeuIleGlnSerIleLysAspLysCysProCysCysTyrGlyProLeuGluCysProValPheProThrGluLeuAlaPheAlaLeuAspThrSerGluGlyValAsnGlnAspThrPheGlyArgMetArgAspValValLeuSerIleValAsnAspLeuThrIleAlaGluSerAsnCysProArgGlyAlaArgValAlaValValThrTyrAsnAsnGluValThrThrGluIleArgPheAlaAspSerLysArgLysSerValLeuLeuAspLysIleLysAsnLeuGlnValAlaLeuThrSerLysGlnGlnSerLeuGluThrAlaMetSerPheValAlaArgAsnThrPheLysArgValArgAsnGlyPheLeuMetArgLysValAlaValPhePheSerAsnThrProThrArgAlaSerProGlnLeuArgGluAlaValLeuLysLeuSerAspAlaGlyIleThrProLeuPheLeuThrArgGlnGluAspArgGlnLeuIleAsnAlaLeuGlnIleAsnAsnThrAlaValGlyHisAlaLeuValLeuProAlaGlyArgAspLeuThrAspPheLeuGluAsnValLeuThrCysHisValCysLeuAspIleCysAsnIleAspProSerCysGlyPheGlySerTrpArgProSerPheArgAspArgArgAlaAlaGlySerAspValAspIleAspMetAlaPheIleLeuAspSerAlaGluThrThrThrLeuPheGlnPheAsnGluMetLysLysTyrIleAlaTyrLeuValArgGlnLeuAspMetSerProAspProLysAlaSerGlnHisPheAlaArgValAlaValValGlnHisAlaProSerGluSerValAspAsnAlaSerMetProProValLysValGluPheSerLeuThrAspTyrGlySerLysGluLysLeuValAspPheLeuSerArgGlyMetThrGlnLeuGlnGlyThrArgAlaLeuGlySerAlaIleGluTyrThrIleGluAsnValPheGluSerAlaProAsnProArgAspLeuLysIleValValLeuMetLeuThrGlyGluValProGluGlnGlnLeuGluGluAlaGlnArgValIleLeuGlnAlaLysCysLysGlyTyrPhePheValValLeuGlyIleGlyArgLysValAsnIleLysGluValTyrThrPheAlaSerGluProAsnAspValPhePheLysLeuValAspLysSerThrGluLeuAsnGluGluProLeuMetArgPheGlyArgLeuLeuProSerPheValSerSerGluAsnAlaPheTyrLeuSerProAspIleArgLysGlnCysAspTrpPheGlnGlyAspGlnProThrLysAsnLeuValLysPheGlyHisLysGlnValAsnValProAsnAsnValThrSerSerProThrSerAsnProValThrThrThrLysProValThrThrThrLysProValThrThrThrThrLysProValThrThrThrThrLysProValThrIleIleAsnGlnProSerValLysProAlaAlaAlaLysProAlaProAlaLysProValAlaAlaLysProValAlaThrLysMetAlaThrValArgProProValAlaValLysProAlaThrAlaAlaLysProValAlaAlaLysProAlaAlaValArgProProAlaAlaAlaAlaAlaLysProValAlaThrLysProGluValProArgProGlnAlaAlaLysProAlaAlaThrLysProAlaThrThrLysProMetValLysMetSerArgGluValGlnValPheGluIleThrGluAsnSerAlaLysLeuHisTrpGluArgAlaGluProProGlyProTyrPheTyrAspLeuThrValThrSerAlaHisAspGlnSerLeuValLeuLysGlnAsnLeuThrValThrAspArgValIleGlyGlyLeuLeuAlaGlyGlnThrTyrHisValAlaValValCysTyrLeuArgSerGlnValArgAlaThrTyrHisGlySerPheSerThrLysLysSerGlnProProProProGlnProAlaArgSerAlaSerSerSerThrIleAsnLeuMetValSerThrGluProLeuAlaLeuThrGluThrAspIleCysLysLeuProLysAspGluGlyThrCysArgAspPheIleLeuLysTrpTyrTyrAspProAsnThrLysSerCysAlaArgPheTrpTyrGlyGlyCysGlyGlyAsnGluAsnLysPheGlySerGlnLysGluCysGluLysValCysAlaProValLeuAlaLysProGlyValIleSerValMetGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729011"
    }
  ],
  "type": "nucleotide"
}