{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371743065",
  "communityStandardTitle": [
    "NM_152416.4(NDUFAF6):c.182G>A (p.Cys61Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3338224[alleleid]",
        "alleleId": 3338224,
        "preferredName": "NM_152416.4(NDUFAF6):c.182G>A (p.Cys61Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3187580",
        "RCV": [
          "RCV004477423"
        ],
        "variationId": 3187580
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.96037418G>A?assembly=hg19",
        "id": "chr8:g.96037418G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.95025190G>A?assembly=hg38",
        "id": "chr8:g.95025190G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1399892173",
        "rs": 1399892173
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-95025190-G-A?dataset=gnomad_r3",
        "id": "8-95025190-G-A",
        "variant": "8:95025190 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-95025190-G-A?dataset=gnomad_r4",
        "id": "8-95025190-G-A",
        "variant": "8:95025190 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 95025190,
          "referenceAllele": "G",
          "start": 95025189
        }
      ],
      "hgvs": [
        "NC_000008.11:g.95025190G>A",
        "CM000670.2:g.95025190G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 96037418,
          "referenceAllele": "G",
          "start": 96037417
        }
      ],
      "hgvs": [
        "NC_000008.10:g.96037418G>A",
        "CM000670.1:g.96037418G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 96106594,
          "referenceAllele": "G",
          "start": 96106593
        }
      ],
      "hgvs": [
        "NC_000008.9:g.96106594G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5198,
          "referenceAllele": "G",
          "start": 5197
        }
      ],
      "hgvs": [
        "NG_016647.1:g.5198G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134920,
          "referenceAllele": "G",
          "start": 134919
        }
      ],
      "hgvs": [
        "NG_016647.2:g.134920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616235"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000519804.2:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430230.2:p.Cys61Tyr",
        "hgvsWellDefined": "ENSP00000430230.2:p.Cys61Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000697355.1:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513277.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 333,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 333,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000697364.1:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513278.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000396124.9:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379430.4:p.Cys61Tyr",
        "hgvsWellDefined": "ENSP00000379430.4:p.Cys61Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753488",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396124.9:c.182G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152416.4:c.182G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379430.4:p.Cys61Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_689629.2:p.Cys61Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000396111.6:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379417.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 967,
          "endIntronDirection": "+",
          "endIntronOffset": 1871,
          "referenceAllele": "G",
          "start": 967,
          "startIntronDirection": "+",
          "startIntronOffset": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000396113.5:c.-84+1871G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379419.1:n.-84+1871G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277104"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "referenceAllele": "G",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000396124.8:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379430.4:p.Cys61Tyr",
        "hgvsWellDefined": "ENSP00000379430.4:p.Cys61Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277108"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000454358.6:c.123G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302528"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "G",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000517976.5:c.170G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430099.1:p.Cys57Tyr",
        "hgvsWellDefined": "ENSP00000430099.1:p.Cys57Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000518258.5:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428788.1:p.Cys61Tyr",
        "hgvsWellDefined": "ENSP00000428788.1:p.Cys61Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS345756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000518608.5:c.123G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 276,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 276,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000519136.5:c.-255-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429585.1:n.-255-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS346438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000520632.5:c.158G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428666.1:p.Cys53Tyr",
        "hgvsWellDefined": "ENSP00000428666.1:p.Cys53Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347630"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000520757.1:c.123G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS347738"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000522683.5:c.125G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000430991.1:p.Cys42Tyr",
        "hgvsWellDefined": "ENSP00000430991.1:p.Cys42Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349247"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 185,
          "referenceAllele": "G",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000523337.5:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000429038.1:p.Cys61Tyr",
        "hgvsWellDefined": "ENSP00000429038.1:p.Cys61Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 465,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "ENST00000523378.5:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428034.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS349773"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830305256",
      "coordinates": [
        {
          "allele": "A",
          "end": 205,
          "referenceAllele": "G",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_152416.3:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689629.2:p.Cys61Tyr",
        "hgvsWellDefined": "NP_689629.2:p.Cys61Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_005250789.1:c.-99G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250846.1:n.-99G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "G",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_005250790.1:c.-271G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250847.1:n.-271G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059315"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_005250791.1:c.-399G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250848.1:n.-399G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_005250792.1:c.-403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250849.1:n.-403G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2,
          "referenceAllele": "G",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_005250793.1:c.-472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250850.1:n.-472G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1440,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516833.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515135.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1401,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516834.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515136.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1042,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516835.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515137.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1342,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516836.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515138.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1400,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1400,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516837.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515139.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084037"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1277,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516838.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515140.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1179,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516839.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515141.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1273,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516840.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515142.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1302,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516841.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515143.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084041"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516842.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515144.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084042"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1590,
          "endIntronDirection": "+",
          "endIntronOffset": 1871,
          "referenceAllele": "G",
          "start": 1590,
          "startIntronDirection": "+",
          "startIntronOffset": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516843.1:c.-84+1871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515145.1:n.-84+1871G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084043"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001330582.1:c.-99G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317511.1:n.-99G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 562,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354514.1:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341443.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354515.1:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341444.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354516.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341445.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354517.1:c.-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341446.1:n.-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354518.1:c.-271G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341447.1:n.-271G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354519.1:c.-267G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341448.1:n.-267G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354521.1:c.-99G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341450.1:n.-99G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354522.1:c.-383-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341451.1:n.-383-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 464,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 464,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354524.1:c.-456-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341453.1:n.-456-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 508,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354525.1:c.-456-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341454.1:n.-456-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354527.1:c.-616G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341456.1:n.-616G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354528.1:c.-587G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341457.1:n.-587G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354529.1:c.-399G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341458.1:n.-399G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354530.1:c.-501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341459.1:n.-501G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354531.1:c.-497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341460.1:n.-497G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354532.1:c.-505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341461.1:n.-505G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354533.1:c.-468G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341462.1:n.-468G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354534.1:c.-136-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341463.1:n.-136-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148910.1:n.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531362"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148911.1:n.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148912.1:n.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148913.1:n.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148914.1:n.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 216,
          "referenceAllele": "G",
          "start": 215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148915.1:n.216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "referenceAllele": "G",
          "start": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_005250792.2:c.-403G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250849.1:n.-403G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_005250793.3:c.-472G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250850.1:n.-472G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1440,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516833.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515135.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1401,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1401,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516834.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515136.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 659,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 659,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516835.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515137.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1342,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1342,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516836.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515138.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1400,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1400,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516837.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515139.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1277,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1277,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516838.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515140.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1179,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1179,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516839.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515141.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1273,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1273,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516840.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515142.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1302,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1302,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516841.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515143.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544310"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1175,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1175,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_011516842.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515144.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_017013027.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868516.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 551,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 551,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_017013028.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868517.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566451"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1140,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 1140,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_017013029.1:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868518.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566452"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 25,
          "endIntronDirection": "+",
          "endIntronOffset": 1871,
          "referenceAllele": "G",
          "start": 25,
          "startIntronDirection": "+",
          "startIntronOffset": 1870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_017013033.2:c.-84+1871G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868522.1:n.-84+1871G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 100,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 100,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "XM_024447062.1:c.-136-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302830.1:n.-136-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830305256",
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_152416.4:c.182G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689629.2:p.Cys61Tyr",
        "hgvsWellDefined": "NP_689629.2:p.Cys61Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672329",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396124.9:c.182G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152416.4:c.182G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379430.4:p.Cys61Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_689629.2:p.Cys61Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148913.2:n.202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704884"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148914.2:n.202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001330582.2:c.-99G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317511.1:n.-99G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 531,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 531,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354514.2:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341443.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354515.2:c.-83-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341444.1:n.-83-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354516.2:c.42-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341445.1:n.42-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354517.2:c.-52G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341446.1:n.-52G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354518.2:c.-271G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341447.1:n.-271G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354519.2:c.-267G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341448.1:n.-267G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720493"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354521.2:c.-99G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341450.1:n.-99G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354522.2:c.-383-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341451.1:n.-383-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354524.2:c.-456-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341453.1:n.-456-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720496"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354525.2:c.-456-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341454.1:n.-456-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354527.2:c.-616G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341456.1:n.-616G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720498"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354528.2:c.-587G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341457.1:n.-587G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354529.2:c.-399G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341458.1:n.-399G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720500"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354530.2:c.-501G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341459.1:n.-501G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354531.2:c.-497G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341460.1:n.-497G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354532.2:c.-505G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341461.1:n.-505G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720503"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354533.2:c.-468G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341462.1:n.-468G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 6804,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 6805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NM_001354534.2:c.-136-6805G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341463.1:n.-136-6805G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148910.2:n.202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148911.2:n.202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731491"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148912.2:n.202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 202,
          "referenceAllele": "G",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028625",
      "geneNCBI_id": 137682,
      "geneSymbol": "NDUFAF6",
      "hgvs": [
        "NR_148915.2:n.202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731493"
    }
  ],
  "type": "nucleotide"
}