{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA409120361",
  "communityStandardTitle": [
    "NM_000022.4(ADA):c.679-1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3546907",
        "active": true,
        "id": "COSM3546907"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1698851[alleleid]",
        "alleleId": 1698851,
        "preferredName": "NM_000022.4(ADA):c.679-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1704316",
        "RCV": [
          "RCV002281681"
        ],
        "variationId": 1704316
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.43251572C>T?assembly=hg19",
        "id": "chr20:g.43251572C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr20:g.44622931C>T?assembly=hg38",
        "id": "chr20:g.44622931C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2516165932",
        "rs": 2516165932
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 44622931,
          "referenceAllele": "C",
          "start": 44622930
        }
      ],
      "hgvs": [
        "NC_000020.11:g.44622931C>T",
        "CM000682.2:g.44622931C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 43251572,
          "referenceAllele": "C",
          "start": 43251571
        }
      ],
      "hgvs": [
        "NC_000020.10:g.43251572C>T",
        "CM000682.1:g.43251572C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "T",
          "end": 42684986,
          "referenceAllele": "C",
          "start": 42684985
        }
      ],
      "hgvs": [
        "NC_000020.9:g.42684986C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33805,
          "referenceAllele": "G",
          "start": 33804
        }
      ],
      "hgvs": [
        "NG_007385.1:g.33805G>A",
        "LRG_16:g.33805G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000559"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 845,
          "referenceAllele": "G",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.6:n.845G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905402"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 964,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 964,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536076.2:c.526-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512234.1:n.526-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905760"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 762,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.6:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.2:c.607-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:n.607-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.6:c.*63-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.*63-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905773"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695889.1:c.219-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512240.1:n.219-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907386"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2557,
          "referenceAllele": "G",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695890.1:n.2557G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907387"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695891.1:c.219-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512241.1:n.219-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907388"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 920,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 920,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695927.1:c.757-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512270.1:n.757-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 724,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 724,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695949.1:c.604-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512281.1:n.604-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695957.1:c.*170-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512286.1:n.*170-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907439"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695991.1:c.217-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512314.1:n.217-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907468"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 726,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695992.1:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512315.1:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 788,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695993.1:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512316.1:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907470"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 722,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 722,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695994.1:c.652-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512317.1:n.652-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695995.1:c.289-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512318.1:n.289-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907472"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "G",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695996.1:n.825G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696003.1:n.846G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 846,
          "referenceAllele": "G",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696004.1:n.846G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 128,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 128,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696005.1:c.129-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 717,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 717,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696006.1:c.607-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512325.1:n.607-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907483"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696007.1:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512326.1:n.605G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "referenceAllele": "G",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696008.1:n.3032G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696017.1:c.676-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512333.1:n.676-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907494"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 773,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 773,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696034.1:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512343.1:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907511"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 864,
          "referenceAllele": "G",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696035.1:n.864G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696036.1:n.1444G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696037.1:n.2356-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 844,
          "referenceAllele": "G",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696038.1:c.*500G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512344.1:n.*500G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907515"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696039.1:n.1042G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907516"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 754,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696058.1:c.676-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512361.1:n.676-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907535"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 896,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 896,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696059.1:c.*624-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512362.1:n.*624-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907536"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 874,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 874,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696060.1:c.748-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512363.1:n.748-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 807,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 807,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696061.1:c.676-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512364.1:n.676-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 761,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 761,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696062.1:c.742-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512365.1:n.742-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 832,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 832,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696063.1:c.754-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512366.1:n.754-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 993,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 993,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696064.1:c.526-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512367.1:n.526-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696065.1:c.66-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512368.1:n.66-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "G",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696073.1:n.989G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 294,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696074.1:n.295-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 895,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696075.1:c.*649-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512374.1:n.*649-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696076.1:c.748-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512375.1:n.748-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696077.1:c.673-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512376.1:n.673-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 811,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696078.1:c.676-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512377.1:n.676-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907555"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 746,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696079.1:c.676-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512378.1:n.676-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 788,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696080.1:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512379.1:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 797,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 797,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696081.1:n.798-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 784,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696082.1:c.754-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512380.1:n.754-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1635,
          "referenceAllele": "G",
          "start": 1634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696083.1:n.1635G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 855,
          "referenceAllele": "G",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696084.1:n.855G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696104.1:c.363-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512399.1:n.363-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.9:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.679-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.679-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:n.679-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:n.679-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.8:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 1001,
          "referenceAllele": "C",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009019",
      "geneNCBI_id": 11142,
      "geneSymbol": "PKIG",
      "hgvs": [
        "ENST00000372887.5:c.152-1002C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361978.1:n.152-1002C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "G",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000464097.5:n.428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307998"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 838,
          "referenceAllele": "G",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.5:n.838G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330201"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 752,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 752,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.5:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.1:c.607-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:n.607-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360972"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 374,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.5:c.*63-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.*63-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 806,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 806,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.2:c.679-1G>A",
        "LRG_16t1:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_005260236.2:c.607-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005260293.1:n.607-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062714"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 616,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528478.1:c.274-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526780.1:n.274-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 861,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 861,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528479.1:c.274-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526781.1:n.274-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 732,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 732,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XR_244129.1:n.733-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.3:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 713,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 713,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.1:c.274-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:n.274-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514712"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.1:c.607-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:n.607-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514713"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 829,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 829,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.1:n.830-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.4:c.679-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:n.679-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.679-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.679-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:n.679-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:n.679-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 654,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 654,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.2:c.274-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:n.274-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718065"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 698,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.2:c.607-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:n.607-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.2:n.771-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730959"
    }
  ],
  "type": "nucleotide"
}