{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA359190253",
  "communityStandardTitle": [
    "NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1250380",
        "active": true,
        "id": "COSM1250380"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=830192[alleleid]",
        "alleleId": 830192,
        "preferredName": "NM_001369.3(DNAH5):c.10930G>T (p.Gly3644Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/844652",
        "RCV": [
          "RCV001047561"
        ],
        "variationId": 844652
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13752341C>A?assembly=hg19",
        "id": "chr5:g.13752341C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.13752232C>A?assembly=hg38",
        "id": "chr5:g.13752232C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1750339039",
        "rs": 1750339039
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13752232,
          "referenceAllele": "C",
          "start": 13752231
        }
      ],
      "hgvs": [
        "NC_000005.10:g.13752232C>A",
        "CM000667.2:g.13752232C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13752341,
          "referenceAllele": "C",
          "start": 13752340
        }
      ],
      "hgvs": [
        "NC_000005.9:g.13752341C>A",
        "CM000667.1:g.13752341C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 13805341,
          "referenceAllele": "C",
          "start": 13805340
        }
      ],
      "hgvs": [
        "NC_000005.8:g.13805341C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197249,
          "referenceAllele": "G",
          "start": 197248
        }
      ],
      "hgvs": [
        "NG_013081.1:g.197249G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197249,
          "referenceAllele": "G",
          "start": 197248
        }
      ],
      "hgvs": [
        "NG_013081.2:g.197249G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673632"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11180,
          "referenceAllele": "G",
          "start": 11179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.5:c.10930G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Gly3644Ter",
        "hgvsWellDefined": "ENSP00000265104.4:p.Gly3644_Lys4624delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.10930G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.10930G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Gly3644Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Gly3644Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11044,
          "referenceAllele": "G",
          "start": 11043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000681290.1:c.10885G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505288.1:p.Gly3629Ter",
        "hgvsWellDefined": "ENSP00000505288.1:p.Gly3629_Lys4609delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11035,
          "referenceAllele": "G",
          "start": 11034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "ENST00000265104.4:c.10930G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265104.4:p.Gly3644Ter",
        "hgvsWellDefined": "ENSP00000265104.4:p.Gly3644_Lys4624delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703575",
      "coordinates": [
        {
          "allele": "T",
          "end": 10972,
          "referenceAllele": "G",
          "start": 10971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.2:c.10930G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Gly3644Ter",
        "hgvsWellDefined": "NP_001360.1:p.Gly3644_Lys4624delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10985,
          "referenceAllele": "G",
          "start": 10984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.2:c.10885G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.1:p.Gly3629Ter",
        "hgvsWellDefined": "XP_005248319.1:p.Gly3629_Lys4609delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11055,
          "referenceAllele": "G",
          "start": 11054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_005248262.3:c.11038G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248319.2:p.Gly3680Ter",
        "hgvsWellDefined": "XP_005248319.2:p.Gly3680_Lys4660delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11055,
          "referenceAllele": "G",
          "start": 11054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009177.1:c.11038G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864666.1:p.Gly3680Ter",
        "hgvsWellDefined": "XP_016864666.1:p.Gly3680_Lys4520delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11858,
          "referenceAllele": "G",
          "start": 11857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009178.1:c.9943G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864667.1:p.Gly3315Ter",
        "hgvsWellDefined": "XP_016864667.1:p.Gly3315_Lys4295delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10081,
          "referenceAllele": "G",
          "start": 10080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009179.2:c.9943G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864668.1:p.Gly3315Ter",
        "hgvsWellDefined": "XP_016864668.1:p.Gly3315_Lys4295delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11055,
          "referenceAllele": "G",
          "start": 11054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009180.1:c.11038G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864669.1:p.Gly3680Ter",
        "hgvsWellDefined": "XP_016864669.1:p.Gly3680_Tyr4272delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11055,
          "referenceAllele": "G",
          "start": 11054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009181.1:c.11038G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864670.1:p.Gly3680Ter",
        "hgvsWellDefined": "XP_016864670.1:p.Gly3680_Lys3960delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysAspIleGluLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11055,
          "referenceAllele": "G",
          "start": 11054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009182.1:c.11038G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864671.1:p.Gly3680Ter",
        "hgvsWellDefined": "XP_016864671.1:p.Gly3680_Pro3809delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnTrpLeuArgGlyAlaAlaSerSerThrSerSerLeuLeuArgCysAlaTrpLeuMetArgCysIleArgLeuArgPheAlaSerPheTrpAlaTyrLeuThrPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6351,
          "referenceAllele": "G",
          "start": 6350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009185.1:c.6127G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864674.1:p.Gly2043Ter",
        "hgvsWellDefined": "XP_016864674.1:p.Gly2043_Lys3023delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5767,
          "referenceAllele": "G",
          "start": 5766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009186.1:c.5680G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864675.1:p.Gly1894Ter",
        "hgvsWellDefined": "XP_016864675.1:p.Gly1894_Lys2874delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6583,
          "referenceAllele": "G",
          "start": 6582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_017009188.1:c.5017G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864677.1:p.Gly1673Ter",
        "hgvsWellDefined": "XP_016864677.1:p.Gly1673_Lys2653delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13728,
          "referenceAllele": "G",
          "start": 13727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454388.1:c.9943G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310156.1:p.Gly3315Ter",
        "hgvsWellDefined": "XP_024310156.1:p.Gly3315_Lys4295delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12370,
          "referenceAllele": "G",
          "start": 12369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XM_024454389.1:c.9532G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024310157.1:p.Gly3178Ter",
        "hgvsWellDefined": "XP_024310157.1:p.Gly3178_Lys4158delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703575",
      "coordinates": [
        {
          "allele": "T",
          "end": 11180,
          "referenceAllele": "G",
          "start": 11179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.10930G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:p.Gly3644Ter",
        "hgvsWellDefined": "NP_001360.1:p.Gly3644_Lys4624delinsArgProLeuLeuIleGluAspValGlyGluGluLeuAspProAlaLeuAspAsnValLeuGluArgAsnPheIleLysThrGlySerThrPheLysValLysValGlyAspLysGluValAspValLeuAspGlyPheArgLeuTyrIleThrThrLysLeuProAsnProAlaTyrThrProGluIleSerAlaArgThrSerIleIleAspPheThrValThrMetLysGlyLeuGluAspGlnLeuLeuGlyArgValIleLeuThrGluLysGlnGluLeuGluLysGluArgThrHisLeuMetGluAspValThrAlaAsnLysArgArgMetLysGluLeuGluAspAsnLeuLeuTyrArgLeuThrSerThrGlnGlySerLeuValGluAspGluSerLeuIleValValLeuSerAsnThrLysArgThrAlaGluGluValThrGlnLysLeuGluIleSerAlaGluThrGluValGlnIleAsnSerAlaArgGluGluTyrArgProValAlaThrArgGlySerIleLeuTyrPheLeuIleThrGluMetArgLeuValAsnGluMetTyrGlnThrSerLeuArgGlnPheLeuGlyLeuPheAspLeuSerLeuAlaArgSerValLysSerProIleThrSerLysArgIleAlaAsnIleIleGluHisMetThrTyrGluValTyrLysTyrAlaAlaArgGlyLeuTyrGluGluHisLysPheLeuPheThrLeuLeuLeuThrLeuLysIleAspIleGlnArgAsnArgValLysHisGluGluPheLeuThrLeuIleLysGlyGlyAlaSerLeuAspLeuLysAlaCysProProLysProSerLysTrpIleLeuAspIleThrTrpLeuAsnLeuValGluLeuSerLysLeuArgGlnPheSerAspValLeuAspGlnIleSerArgAsnGluLysMetTrpLysIleTrpPheAspLysGluAsnProGluGluGluProLeuProAsnAlaTyrAspLysSerLeuAspCysPheArgArgLeuLeuLeuIleArgSerTrpCysProAspArgThrIleAlaGlnAlaArgLysTyrIleValAspSerMetGlyGluLysTyrAlaGluGlyValIleLeuAspLeuGluLysThrTrpGluGluSerAspProArgThrProLeuIleCysLeuLeuSerMetGlySerAspProThrAspSerIleIleAlaLeuGlyLysArgLeuLysIleGluThrArgTyrValSerMetGlyGlnGlyGlnGluValHisAlaArgLysLeuLeuGlnGlnThrMetAlaAsnGlyGlyTrpAlaLeuLeuGlnAsnCysHisLeuGlyLeuAspPheMetAspGluLeuMetAspIleIleIleGluThrGluLeuValHisAspAlaPheArgLeuTrpMetThrThrGluAlaHisLysGlnPheProIleThrLeuLeuGlnMetSerIleLysPheAlaAsnAspProProGlnGlyLeuArgAlaGlyLeuLysArgThrTyrSerGlyValSerGlnAspLeuLeuAspValSerSerGlySerGlnTrpLysProMetLeuTyrAlaValAlaPheLeuHisSerThrValGlnGluArgArgLysPheGlyAlaLeuGlyTrpAsnIleProTyrGluPheAsnGlnAlaAspPheAsnAlaThrValGlnPheIleGlnAsnHisLeuAspAspMetAspValLysLysGlyValSerTrpThrThrIleArgTyrMetIleGlyGluIleGlnTyrGlyGlyArgValThrAspAspTyrAspLysArgLeuLeuAsnThrPheAlaLysValTrpPheSerGluAsnMetPheGlyProAspPheSerPheTyrGlnGlyTyrAsnIleProLysCysSerThrValAspAsnTyrLeuGlnTyrIleGlnSerLeuProAlaTyrAspSerProGluValPheGlyLeuHisProAsnAlaAspIleThrTyrGlnSerLysLeuAlaLysAspValLeuAspThrIleLeuGlyIleGlnProLysAspThrSerGlyGlyGlyAspGluThrArgGluAlaValValAlaArgLeuAlaAspAspMetLeuGluLysLeuProProAspTyrValProPheGluValLysGluArgLeuGlnLysMetGlyProPheGlnProMetAsnIlePheLeuArgGlnGluIleAspArgMetGlnArgValLeuSerLeuValArgSerThrLeuThrGluLeuLysLeuAlaIleAspGlyThrIleIleMetSerGluAsnLeuArgAspAlaLeuAspCysMetPheAspAlaArgIleProAlaTrpTrpLysLysAlaSerTrpIleSerSerThrLeuGlyPheTrpPheThrGluLeuIleGluArgAsnSerGlnPheThrSerTrpValPheAsnGlyArgProHisCysPheTrpMetThrGlyPhePheAsnProGlnGlyPheLeuThrAlaMetArgGlnGluIleThrArgAlaAsnLysGlyTrpAlaLeuAspAsnMetValLeuCysAsnGluValThrLysTrpMetLysAspAspIleSerAlaProProThrGluGlyValTyrValTyrGlyLeuTyrLeuGluGlyAlaGlyTrpAspLysArgAsnMetLysLeuIleGluSerLysProLysValLeuPheGluLeuMetProValIleArgIleTyrAlaGluAsnAsnThrLeuArgAspProArgPheTyrSerCysProIleTyrLysLysProValArgThrAspLeuAsnTyrIleAlaAlaValAspLeuArgThrAlaGlnThrProGluHisTrpValLeuArgGlyValAlaLeuLeuCysAspValLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.10930G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001369.3:c.10930G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265104.4:p.Gly3644Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001360.1:p.Gly3644Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}