{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA390375012",
  "communityStandardTitle": [
    "NM_182476.3(COQ6):c.563G>A (p.Trp188Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74424931G>A?assembly=hg19",
        "id": "chr14:g.74424931G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.73958228G>A?assembly=hg38",
        "id": "chr14:g.73958228G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73958228,
          "referenceAllele": "G",
          "start": 73958227
        }
      ],
      "hgvs": [
        "NC_000014.9:g.73958228G>A",
        "CM000676.2:g.73958228G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74424931,
          "referenceAllele": "G",
          "start": 74424930
        }
      ],
      "hgvs": [
        "NC_000014.8:g.74424931G>A",
        "CM000676.1:g.74424931G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73494684,
          "referenceAllele": "G",
          "start": 73494683
        }
      ],
      "hgvs": [
        "NC_000014.7:g.73494684G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 13295,
          "referenceAllele": "G",
          "start": 13294
        }
      ],
      "hgvs": [
        "NG_032805.1:g.13295G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005227"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000334571.7:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333946.2:p.Trp188Ter",
        "hgvsWellDefined": "ENSP00000333946.2:p.Trp188_Lys468delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334571.7:c.563G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182476.3:c.563G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333946.2:p.Trp188Ter"
          },
          "RefSeq": {
            "hgvs": "NP_872282.1:p.Trp188Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 567,
          "referenceAllele": "G",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000238709.8:c.560G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000238709.5:p.Trp187Ter",
        "hgvsWellDefined": "ENSP00000238709.5:p.Trp187_Lys467delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 603,
          "referenceAllele": "G",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000334571.6:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333946.2:p.Trp188Ter",
        "hgvsWellDefined": "ENSP00000333946.2:p.Trp188_Lys468delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000394026.8:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377594.4:p.Trp163Ter",
        "hgvsWellDefined": "ENSP00000377594.4:p.Trp163_Lys443delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 411,
          "referenceAllele": "G",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000553462.6:n.411G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000554153.5:c.*168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451685.1:n.*168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 415,
          "referenceAllele": "G",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000554320.1:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451123.1:p.Trp113Ter",
        "hgvsWellDefined": "ENSP00000451123.1:p.Trp113Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000554341.6:c.*168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450736.2:n.*168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 2300,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000554920.5:c.481+2300G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451562.1:n.481+2300G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000555511.5:n.681G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 597,
          "referenceAllele": "G",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000556300.6:n.597G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000557205.6:n.527G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2878,
          "referenceAllele": "C",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "ENST00000557325.5:c.*1302C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451810.1:n.*1302C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 536,
          "referenceAllele": "G",
          "start": 535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000557584.5:c.*168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450511.1:n.*168G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373151"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 585,
          "referenceAllele": "G",
          "start": 584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "ENST00000629426.2:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486650.1:p.Trp113Ter",
        "hgvsWellDefined": "ENSP00000486650.1:p.Trp113_Lys393delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407224"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645447642",
      "coordinates": [
        {
          "allele": "A",
          "end": 644,
          "referenceAllele": "G",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182476.2:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872282.1:p.Trp188Ter",
        "hgvsWellDefined": "NP_872282.1:p.Trp188_Lys468delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830407872",
      "coordinates": [
        {
          "allele": "A",
          "end": 647,
          "referenceAllele": "G",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182480.2:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872286.2:p.Trp163Ter",
        "hgvsWellDefined": "NP_872286.2:p.Trp163_Lys443delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_005267716.1:c.398G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267773.1:p.Trp133Ter",
        "hgvsWellDefined": "XP_005267773.1:p.Trp133_Lys413delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 688,
          "referenceAllele": "G",
          "start": 687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_006720156.1:c.236G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720219.1:p.Trp79Ter",
        "hgvsWellDefined": "XP_006720219.1:p.Trp79_Lys359delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536807.1:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535109.1:p.Trp188Ter",
        "hgvsWellDefined": "XP_011535109.1:p.Trp188_Lys432delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103782"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536808.1:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535110.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_011535110.1:p.Trp113_Lys393delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536809.1:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535111.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_011535111.1:p.Trp113_Lys393delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536810.1:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535112.1:p.Trp188Ter",
        "hgvsWellDefined": "XP_011535112.1:p.Trp188_Lys306delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83,
          "endIntronDirection": "-",
          "endIntronOffset": 742,
          "referenceAllele": "G",
          "start": 83,
          "startIntronDirection": "-",
          "startIntronOffset": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536811.1:c.73-743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535113.1:n.73-743G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XR_943465.1:n.616G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "referenceAllele": "G",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XR_943466.1:n.616G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137499"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2973,
          "referenceAllele": "C",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001330189.1:c.*1302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317118.1:n.*1302C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536807.2:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535109.1:p.Trp188Ter",
        "hgvsWellDefined": "XP_011535109.1:p.Trp188_Lys432delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552645"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 435,
          "referenceAllele": "G",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536808.2:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535110.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_011535110.1:p.Trp113_Lys393delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552646"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "referenceAllele": "G",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536809.3:c.338G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535111.1:p.Trp113Ter",
        "hgvsWellDefined": "XP_011535111.1:p.Trp113_Lys393delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_011536810.3:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535112.1:p.Trp188Ter",
        "hgvsWellDefined": "XP_011535112.1:p.Trp188_Lys306delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552648"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 742,
          "referenceAllele": "G",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_017021351.2:c.73-743G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876840.1:n.73-743G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_017021352.2:c.-737G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876841.1:n.-737G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XM_024449619.1:c.-186G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305387.1:n.-186G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583166"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 527,
          "referenceAllele": "G",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XR_001750342.1:n.527G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XR_943465.3:n.593G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613426"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "G",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "XR_943466.3:n.593G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2929,
          "referenceAllele": "C",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001330189.2:c.*1302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317118.1:n.*1302C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645447642",
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182476.3:c.563G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872282.1:p.Trp188Ter",
        "hgvsWellDefined": "NP_872282.1:p.Trp188_Lys468delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000334571.7:c.563G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182476.3:c.563G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000333946.2:p.Trp188Ter"
          },
          "RefSeq": {
            "hgvs": "NP_872282.1:p.Trp188Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "endIntronDirection": "-",
          "endIntronOffset": 2640,
          "referenceAllele": "C",
          "start": 1476,
          "startIntronDirection": "-",
          "startIntronOffset": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382258.1:c.1201-2641C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369187.1:n.1201-2641C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2802,
          "referenceAllele": "C",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382259.1:c.*1302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369188.1:n.*1302C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2695,
          "referenceAllele": "C",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382260.1:c.*1302C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369189.1:n.*1302C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722217"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1476,
          "endIntronDirection": "-",
          "endIntronOffset": 2399,
          "referenceAllele": "C",
          "start": 1476,
          "startIntronDirection": "-",
          "startIntronOffset": 2400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003367",
      "geneNCBI_id": 957,
      "geneSymbol": "ENTPD5",
      "hgvs": [
        "NM_001382262.1:c.1201-2400C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369191.1:n.1201-2400C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830407872",
      "coordinates": [
        {
          "allele": "A",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020233",
      "geneNCBI_id": 51004,
      "geneSymbol": "COQ6",
      "hgvs": [
        "NM_182480.3:c.488G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_872286.2:p.Trp163Ter",
        "hgvsWellDefined": "NP_872286.2:p.Trp163_Lys443delinsValHisIleThrLeuGlyAspGlySerThrPheGlnThrLysLeuLeuIleGlyAlaAspGlyHisAsnSerGlyValArgGlnAlaValGlyIleGlnAsnValSerTrpAsnTyrAspGlnSerAlaValValAlaThrLeuHisLeuSerGluAlaThrGluAsnAsnValAlaTrpGlnArgPheLeuProSerGlyProIleAlaLeuLeuProLeuSerAspThrLeuSerSerLeuValTrpSerThrSerHisGluHisAlaAlaGluLeuValSerMetAspGluGluLysPheValAspAlaValAsnSerAlaPheTrpSerAspAlaAspHisThrAspPheIleAspThrAlaGlyAlaMetLeuGlnTyrAlaValSerLeuLeuLysProThrLysValSerAlaArgGlnLeuProProSerValAlaArgValAspAlaLysSerArgValLeuPheProLeuGlyLeuGlyHisAlaAlaGluTyrValArgProArgValAlaLeuIleGlyAspAlaAlaHisArgValHisProLeuAlaGlyGlnGlyValAsnMetGlyPheGlyAspIleSerSerLeuAlaHisHisLeuSerThrAlaAlaPheAsnGlyLysAspLeuGlySerValSerHisLeuThrGlyTyrGluThrGluArgGlnArgHisAsnThrAlaLeuLeuAlaAlaThrAspLeuLeuLysArgLeuTyrSerThrSerAlaSerProLeuValLeuLeuArgThrTrpGlyLeuGlnAlaThrAsnAlaValSerProLeuLysGluGlnIleMetAlaPheAlaSerLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729759"
    }
  ],
  "type": "nucleotide"
}