{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA891862939",
  "communityStandardTitle": [
    "NM_002336.3(LRP6):c.647+2237_647+4406del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=223216[alleleid]",
        "alleleId": 223216,
        "preferredName": "GRCh38/hg38 12p13.2(chr12:12198797-12200966)x1"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/221487",
        "RCV": [
          "RCV000207188"
        ],
        "variationId": 221487
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 12200966,
          "referenceAllele": "GTGCTGGGATTATAGGCGTGAGTCATTTCTGAATTTTTCTAATCTTATGTTATCCTTTCACATGTCATATTGGTTCCTCAATGACTTTTGACTCATTTATTTATTTAAAATTTAAAGAAAAAATTTATTGAAGATTTGAAAAATAATTCCTAAAAGATTGACTTTTCCAGAAAACTAGCTACACAATGCATCTCATCTACCATGTTAAAATGTGCACTAGACACAAATACAAAAACCATGCAACAAGCCACCATTCTTCAACAATTTGAGCAAAGTTAAATGCCAAAGGAACAACATGGATGACTTGCAAAGAATGGGCTATTTAAGCACCATTTAAAAAAAAAAAAGGAGCACAAATGGATGAGTGTGTTCAGTTATATACACTGAATTGAACCTTTGGCACTAGGAATCACAGCATTTTGTCATATAGCATGAACACATATTATAAAAGTACGTAGGGTCAAAGGAACAGGACCACCAGCATTCAAAAGCAGCTCTGTCAACTAGGCAATAAAACACTCTATAGCATGTGTCTCTGTTGTCCATTGTTGAATACACTGGCAGGAACTTTGAAGTGAAAAAAAAGGTAAGATAGGAAAAAAGGAGCTATTACTCCTTTTATTTTCTCTGTTTAAAATTAAACAGGAAAACATCAATTGTTGTACAATAACATCTTCAAAGTGCATCATTTGTACAAAAGAAAGACTAAGAACAAAAATGTGTTTACAGAGATCCAAACATAAGTGAGTGAGAGCGTCTCTCAGACAGCTTTCTGATGGTTCTCTGGAGGAGCCATTCATAATTGCTGGGCACTAAAAAATGTTGCAGAATTCTTTGCCAGGTACTTTAGGGAACTGTGAAGATAATTCAGTAATAAAACAAGGCTCGGCCAGGCACGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAATCCCGCCTCTACTAAAAATGTAAAAACTAGATGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTTGAGATCATGCCACTGCACTCCCACTTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAGGCTCTTCTCATCCAGAGGTATATAGGCCAACATTGCTCCAATTTGTACATCAGTAGATGTGGTGCTCCATAAACCTTGGACATGAGTGCATGAGGGTGATCTGCAAGAATTTCAGCATACTGTGGTCTGTCAAACTTGCAGAGTAGCTGGGTGCCCAACATCACATTGAAGTATTCTTCTATCCCTGCCACAACTTCATTAACAGCATACTCATTATCTGTGTTTCCACGAGATTTTTTGCAATTTGCATAATCCTGGAGAATGGAATCCACATTCTTCCTGGCAGAAAGAAAAAAGAGATGTTTTTGTCTGGTAATTAAGTCCCAGTCATCAACAAGCCATGGTTTCAGCTCTTCAGGAATCTTCACTTTTTAGCTTCAACTCTGTTCATGAATGTGTCCTCATTTTCAAGAGTAGGATCTACCCGGGGGCCCTTTTCTTCCAAGGAGGCTGAGGCATCTCACTGGTACTGCCACCATCTCCATTTCCAGGTATTTTCTGTTTGTTCTTTTTTGTTTTCACTTCAACATTTTCTGTTGCAGACCAGATGTCTTCTTTCTTGGGGCAGCCCCTCTCATCTTCCCCTCTGCATACTGCTCCTGATGGGCTTTTTGAAGTTGTTTCTGCAAATTGGTGTCCACGTATTTGAGTACTCTGCTCTCTGGAACCCATGCATCCCAATTTTTATTCCAACCACTGTAATATATAAAGTATTTTACTTGTTTGTCCTTTATGGCAACCTTTACACATTTTGCTTCATAAAGAAGCAGCCCATGAAAGCACAGCACTTGCTCACCCTCCTGGAACTTAGGGTTTGAGTCCTGCTTCCACGTCATTTATAAGTGATTCGCAGCCTCCTCCTTCTCCAGCTCATTTTATAATAGAGATTTGATCTGTTCTGTGGTCATGTTTTTCTGGGGTGCTTTTATTTATAAGAGCTTTTGTTTTTTCCTTTATAATAACTT",
          "start": 12198796
        }
      ],
      "hgvs": [
        "NC_000012.12:g.12198797_12200966del",
        "CM000674.2:g.12198797_12200966del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 12353900,
          "referenceAllele": "GTGCTGGGATTATAGGCGTGAGTCATTTCTGAATTTTTCTAATCTTATGTTATCCTTTCACATGTCATATTGGTTCCTCAATGACTTTTGACTCATTTATTTATTTAAAATTTAAAGAAAAAATTTATTGAAGATTTGAAAAATAATTCCTAAAAGATTGACTTTTCCAGAAAACTAGCTACACAATGCATCTCATCTACCATGTTAAAATGTGCACTAGACACAAATACAAAAACCATGCAACAAGCCACCATTCTTCAACAATTTGAGCAAAGTTAAATGCCAAAGGAACAACATGGATGACTTGCAAAGAATGGGCTATTTAAGCACCATTTAAAAAAAAAAAAGGAGCACAAATGGATGAGTGTGTTCAGTTATATACACTGAATTGAACCTTTGGCACTAGGAATCACAGCATTTTGTCATATAGCATGAACACATATTATAAAAGTACGTAGGGTCAAAGGAACAGGACCACCAGCATTCAAAAGCAGCTCTGTCAACTAGGCAATAAAACACTCTATAGCATGTGTCTCTGTTGTCCATTGTTGAATACACTGGCAGGAACTTTGAAGTGAAAAAAAAGGTAAGATAGGAAAAAAGGAGCTATTACTCCTTTTATTTTCTCTGTTTAAAATTAAACAGGAAAACATCAATTGTTGTACAATAACATCTTCAAAGTGCATCATTTGTACAAAAGAAAGACTAAGAACAAAAATGTGTTTACAGAGATCCAAACATAAGTGAGTGAGAGCGTCTCTCAGACAGCTTTCTGATGGTTCTCTGGAGGAGCCATTCATAATTGCTGGGCACTAAAAAATGTTGCAGAATTCTTTGCCAGGTACTTTAGGGAACTGTGAAGATAATTCAGTAATAAAACAAGGCTCGGCCAGGCACGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAATCCCGCCTCTACTAAAAATGTAAAAACTAGATGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTTGAGATCATGCCACTGCACTCCCACTTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAGGCTCTTCTCATCCAGAGGTATATAGGCCAACATTGCTCCAATTTGTACATCAGTAGATGTGGTGCTCCATAAACCTTGGACATGAGTGCATGAGGGTGATCTGCAAGAATTTCAGCATACTGTGGTCTGTCAAACTTGCAGAGTAGCTGGGTGCCCAACATCACATTGAAGTATTCTTCTATCCCTGCCACAACTTCATTAACAGCATACTCATTATCTGTGTTTCCACGAGATTTTTTGCAATTTGCATAATCCTGGAGAATGGAATCCACATTCTTCCTGGCAGAAAGAAAAAAGAGATGTTTTTGTCTGGTAATTAAGTCCCAGTCATCAACAAGCCATGGTTTCAGCTCTTCAGGAATCTTCACTTTTTAGCTTCAACTCTGTTCATGAATGTGTCCTCATTTTCAAGAGTAGGATCTACCCGGGGGCCCTTTTCTTCCAAGGAGGCTGAGGCATCTCACTGGTACTGCCACCATCTCCATTTCCAGGTATTTTCTGTTTGTTCTTTTTTGTTTTCACTTCAACATTTTCTGTTGCAGACCAGATGTCTTCTTTCTTGGGGCAGCCCCTCTCATCTTCCCCTCTGCATACTGCTCCTGATGGGCTTTTTGAAGTTGTTTCTGCAAATTGGTGTCCACGTATTTGAGTACTCTGCTCTCTGGAACCCATGCATCCCAATTTTTATTCCAACCACTGTAATATATAAAGTATTTTACTTGTTTGTCCTTTATGGCAACCTTTACACATTTTGCTTCATAAAGAAGCAGCCCATGAAAGCACAGCACTTGCTCACCCTCCTGGAACTTAGGGTTTGAGTCCTGCTTCCACGTCATTTATAAGTGATTCGCAGCCTCCTCCTTCTCCAGCTCATTTTATAATAGAGATTTGATCTGTTCTGTGGTCATGTTTTTCTGGGGTGCTTTTATTTATAAGAGCTTTTGTTTTTTCCTTTATAATAACTT",
          "start": 12351730
        }
      ],
      "hgvs": [
        "NC_000012.11:g.12351731_12353900del",
        "CM000674.1:g.12351731_12353900del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "",
          "end": 12245167,
          "referenceAllele": "GTGCTGGGATTATAGGCGTGAGTCATTTCTGAATTTTTCTAATCTTATGTTATCCTTTCACATGTCATATTGGTTCCTCAATGACTTTTGACTCATTTATTTATTTAAAATTTAAAGAAAAAATTTATTGAAGATTTGAAAAATAATTCCTAAAAGATTGACTTTTCCAGAAAACTAGCTACACAATGCATCTCATCTACCATGTTAAAATGTGCACTAGACACAAATACAAAAACCATGCAACAAGCCACCATTCTTCAACAATTTGAGCAAAGTTAAATGCCAAAGGAACAACATGGATGACTTGCAAAGAATGGGCTATTTAAGCACCATTTAAAAAAAAAAAAGGAGCACAAATGGATGAGTGTGTTCAGTTATATACACTGAATTGAACCTTTGGCACTAGGAATCACAGCATTTTGTCATATAGCATGAACACATATTATAAAAGTACGTAGGGTCAAAGGAACAGGACCACCAGCATTCAAAAGCAGCTCTGTCAACTAGGCAATAAAACACTCTATAGCATGTGTCTCTGTTGTCCATTGTTGAATACACTGGCAGGAACTTTGAAGTGAAAAAAAAGGTAAGATAGGAAAAAAGGAGCTATTACTCCTTTTATTTTCTCTGTTTAAAATTAAACAGGAAAACATCAATTGTTGTACAATAACATCTTCAAAGTGCATCATTTGTACAAAAGAAAGACTAAGAACAAAAATGTGTTTACAGAGATCCAAACATAAGTGAGTGAGAGCGTCTCTCAGACAGCTTTCTGATGGTTCTCTGGAGGAGCCATTCATAATTGCTGGGCACTAAAAAATGTTGCAGAATTCTTTGCCAGGTACTTTAGGGAACTGTGAAGATAATTCAGTAATAAAACAAGGCTCGGCCAGGCACGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAATCCCGCCTCTACTAAAAATGTAAAAACTAGATGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTTGAGATCATGCCACTGCACTCCCACTTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAGGCTCTTCTCATCCAGAGGTATATAGGCCAACATTGCTCCAATTTGTACATCAGTAGATGTGGTGCTCCATAAACCTTGGACATGAGTGCATGAGGGTGATCTGCAAGAATTTCAGCATACTGTGGTCTGTCAAACTTGCAGAGTAGCTGGGTGCCCAACATCACATTGAAGTATTCTTCTATCCCTGCCACAACTTCATTAACAGCATACTCATTATCTGTGTTTCCACGAGATTTTTTGCAATTTGCATAATCCTGGAGAATGGAATCCACATTCTTCCTGGCAGAAAGAAAAAAGAGATGTTTTTGTCTGGTAATTAAGTCCCAGTCATCAACAAGCCATGGTTTCAGCTCTTCAGGAATCTTCACTTTTTAGCTTCAACTCTGTTCATGAATGTGTCCTCATTTTCAAGAGTAGGATCTACCCGGGGGCCCTTTTCTTCCAAGGAGGCTGAGGCATCTCACTGGTACTGCCACCATCTCCATTTCCAGGTATTTTCTGTTTGTTCTTTTTTGTTTTCACTTCAACATTTTCTGTTGCAGACCAGATGTCTTCTTTCTTGGGGCAGCCCCTCTCATCTTCCCCTCTGCATACTGCTCCTGATGGGCTTTTTGAAGTTGTTTCTGCAAATTGGTGTCCACGTATTTGAGTACTCTGCTCTCTGGAACCCATGCATCCCAATTTTTATTCCAACCACTGTAATATATAAAGTATTTTACTTGTTTGTCCTTTATGGCAACCTTTACACATTTTGCTTCATAAAGAAGCAGCCCATGAAAGCACAGCACTTGCTCACCCTCCTGGAACTTAGGGTTTGAGTCCTGCTTCCACGTCATTTATAAGTGATTCGCAGCCTCCTCCTTCTCCAGCTCATTTTATAATAGAGATTTGATCTGTTCTGTGGTCATGTTTTTCTGGGGTGCTTTTATTTATAAGAGCTTTTGTTTTTTCCTTTATAATAACTT",
          "start": 12242997
        }
      ],
      "hgvs": [
        "NC_000012.10:g.12242998_12245167del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 73081,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 70911
        }
      ],
      "hgvs": [
        "NG_016168.1:g.70912_73081del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002986"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 73081,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 70911
        }
      ],
      "hgvs": [
        "NG_016168.2:g.70912_73081del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673657"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "ENST00000261349.9:c.647+2237_647+4406del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261349.4:n.647+2237_647+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742121",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261349.9:c.647+2237_647+4406del"
          },
          "RefSeq": {
            "hgvs": "NM_002336.3:c.647+2237_647+4406del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261349.4:n.647+2237_647+4406del"
          },
          "RefSeq": {
            "hgvs": "NP_002327.2:n.647+2237_647+4406del"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 724,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 724,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "ENST00000261349.8:c.647+2237_647+4406del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261349.4:n.647+2237_647+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250722"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1061,
          "endIntronDirection": "-",
          "endIntronOffset": 9932,
          "referenceAllele": "GTGCTGGGATTATAGGCGTGAGTCATTTCTGAATTTTTCTAATCTTATGTTATCCTTTCACATGTCATATTGGTTCCTCAATGACTTTTGACTCATTTATTTATTTAAAATTTAAAGAAAAAATTTATTGAAGATTTGAAAAATAATTCCTAAAAGATTGACTTTTCCAGAAAACTAGCTACACAATGCATCTCATCTACCATGTTAAAATGTGCACTAGACACAAATACAAAAACCATGCAACAAGCCACCATTCTTCAACAATTTGAGCAAAGTTAAATGCCAAAGGAACAACATGGATGACTTGCAAAGAATGGGCTATTTAAGCACCATTTAAAAAAAAAAAAGGAGCACAAATGGATGAGTGTGTTCAGTTATATACACTGAATTGAACCTTTGGCACTAGGAATCACAGCATTTTGTCATATAGCATGAACACATATTATAAAAGTACGTAGGGTCAAAGGAACAGGACCACCAGCATTCAAAAGCAGCTCTGTCAACTAGGCAATAAAACACTCTATAGCATGTGTCTCTGTTGTCCATTGTTGAATACACTGGCAGGAACTTTGAAGTGAAAAAAAAGGTAAGATAGGAAAAAAGGAGCTATTACTCCTTTTATTTTCTCTGTTTAAAATTAAACAGGAAAACATCAATTGTTGTACAATAACATCTTCAAAGTGCATCATTTGTACAAAAGAAAGACTAAGAACAAAAATGTGTTTACAGAGATCCAAACATAAGTGAGTGAGAGCGTCTCTCAGACAGCTTTCTGATGGTTCTCTGGAGGAGCCATTCATAATTGCTGGGCACTAAAAAATGTTGCAGAATTCTTTGCCAGGTACTTTAGGGAACTGTGAAGATAATTCAGTAATAAAACAAGGCTCGGCCAGGCACGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTAAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAATCCCGCCTCTACTAAAAATGTAAAAACTAGATGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCAGAAGGCTGAGTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTTGAGATCATGCCACTGCACTCCCACTTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACAAGGCTCTTCTCATCCAGAGGTATATAGGCCAACATTGCTCCAATTTGTACATCAGTAGATGTGGTGCTCCATAAACCTTGGACATGAGTGCATGAGGGTGATCTGCAAGAATTTCAGCATACTGTGGTCTGTCAAACTTGCAGAGTAGCTGGGTGCCCAACATCACATTGAAGTATTCTTCTATCCCTGCCACAACTTCATTAACAGCATACTCATTATCTGTGTTTCCACGAGATTTTTTGCAATTTGCATAATCCTGGAGAATGGAATCCACATTCTTCCTGGCAGAAAGAAAAAAGAGATGTTTTTGTCTGGTAATTAAGTCCCAGTCATCAACAAGCCATGGTTTCAGCTCTTCAGGAATCTTCACTTTTTAGCTTCAACTCTGTTCATGAATGTGTCCTCATTTTCAAGAGTAGGATCTACCCGGGGGCCCTTTTCTTCCAAGGAGGCTGAGGCATCTCACTGGTACTGCCACCATCTCCATTTCCAGGTATTTTCTGTTTGTTCTTTTTTGTTTTCACTTCAACATTTTCTGTTGCAGACCAGATGTCTTCTTTCTTGGGGCAGCCCCTCTCATCTTCCCCTCTGCATACTGCTCCTGATGGGCTTTTTGAAGTTGTTTCTGCAAATTGGTGTCCACGTATTTGAGTACTCTGCTCTCTGGAACCCATGCATCCCAATTTTTATTCCAACCACTGTAATATATAAAGTATTTTACTTGTTTGTCCTTTATGGCAACCTTTACACATTTTGCTTCATAAAGAAGCAGCCCATGAAAGCACAGCACTTGCTCACCCTCCTGGAACTTAGGGTTTGAGTCCTGCTTCCACGTCATTTATAAGTGATTCGCAGCCTCCTCCTTCTCCAGCTCATTTTATAATAGAGATTTGATCTGTTCTGTGGTCATGTTTTTCTGGGGTGCTTTTATTTATAAGAGCTTTTGTTTTTTCCTTTATAATAACTT",
          "start": 1061,
          "startIntronDirection": "+",
          "startIntronOffset": 11293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016657",
      "geneNCBI_id": 79370,
      "geneSymbol": "BCL2L14",
      "hgvs": [
        "ENST00000298566.2:c.*223+11294_*224-9933del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298566.1:n.*223+11294_*224-9933del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254606"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 530,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 530,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "ENST00000535731.1:c.194+2237_194+4406del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439765.1:n.194+2237_194+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359900"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 241,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 241,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "ENST00000538239.5:c.241+2237_241+4406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361212"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 681,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 681,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "ENST00000543091.1:c.647+2237_647+4406del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442472.1:n.647+2237_647+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363819"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 121,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 121,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "ENST00000545658.1:n.121+2237_121+4406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS365213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "NM_002336.2:c.647+2237_647+4406del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002327.2:n.647+2237_647+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027646"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 780,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XM_006719078.2:c.647+2237_647+4406del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719141.1:n.647+2237_647+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072929"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 525,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 525,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XM_011520671.1:c.194+2237_194+4406del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518973.1:n.194+2237_194+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087837"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 780,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XR_429034.1:n.780+2237_780+4406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118240"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 780,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XR_429035.1:n.780+2237_780+4406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118241"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 780,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XM_006719078.4:c.647+2237_647+4406del"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719141.1:n.647+2237_647+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539773"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 540,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 540,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XM_011520671.3:c.194+2237_194+4406del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518973.1:n.194+2237_194+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545841"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 780,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XR_002957325.1:n.780+2237_780+4406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603461"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 780,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 780,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "XR_429035.3:n.780+2237_780+4406del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606628"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 956,
          "endIntronDirection": "+",
          "endIntronOffset": 4406,
          "referenceAllele": "AAGTTATTATAAAGGAAAAAACAAAAGCTCTTATAAATAAAAGCACCCCAGAAAAACATGACCACAGAACAGATCAAATCTCTATTATAAAATGAGCTGGAGAAGGAGGAGGCTGCGAATCACTTATAAATGACGTGGAAGCAGGACTCAAACCCTAAGTTCCAGGAGGGTGAGCAAGTGCTGTGCTTTCATGGGCTGCTTCTTTATGAAGCAAAATGTGTAAAGGTTGCCATAAAGGACAAACAAGTAAAATACTTTATATATTACAGTGGTTGGAATAAAAATTGGGATGCATGGGTTCCAGAGAGCAGAGTACTCAAATACGTGGACACCAATTTGCAGAAACAACTTCAAAAAGCCCATCAGGAGCAGTATGCAGAGGGGAAGATGAGAGGGGCTGCCCCAAGAAAGAAGACATCTGGTCTGCAACAGAAAATGTTGAAGTGAAAACAAAAAAGAACAAACAGAAAATACCTGGAAATGGAGATGGTGGCAGTACCAGTGAGATGCCTCAGCCTCCTTGGAAGAAAAGGGCCCCCGGGTAGATCCTACTCTTGAAAATGAGGACACATTCATGAACAGAGTTGAAGCTAAAAAGTGAAGATTCCTGAAGAGCTGAAACCATGGCTTGTTGATGACTGGGACTTAATTACCAGACAAAAACATCTCTTTTTTCTTTCTGCCAGGAAGAATGTGGATTCCATTCTCCAGGATTATGCAAATTGCAAAAAATCTCGTGGAAACACAGATAATGAGTATGCTGTTAATGAAGTTGTGGCAGGGATAGAAGAATACTTCAATGTGATGTTGGGCACCCAGCTACTCTGCAAGTTTGACAGACCACAGTATGCTGAAATTCTTGCAGATCACCCTCATGCACTCATGTCCAAGGTTTATGGAGCACCACATCTACTGATGTACAAATTGGAGCAATGTTGGCCTATATACCTCTGGATGAGAAGAGCCTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAAGTGGGAGTGCAGTGGCATGATCTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGACTCAGCCTTCTGAGTAGCTGGGATTACAGGTGCGCACCACCACGCCCATCTAGTTTTTACATTTTTAGTAGAGGCGGGATTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGTGCCTGGCCGAGCCTTGTTTTATTACTGAATTATCTTCACAGTTCCCTAAAGTACCTGGCAAAGAATTCTGCAACATTTTTTAGTGCCCAGCAATTATGAATGGCTCCTCCAGAGAACCATCAGAAAGCTGTCTGAGAGACGCTCTCACTCACTTATGTTTGGATCTCTGTAAACACATTTTTGTTCTTAGTCTTTCTTTTGTACAAATGATGCACTTTGAAGATGTTATTGTACAACAATTGATGTTTTCCTGTTTAATTTTAAACAGAGAAAATAAAAGGAGTAATAGCTCCTTTTTTCCTATCTTACCTTTTTTTTCACTTCAAAGTTCCTGCCAGTGTATTCAACAATGGACAACAGAGACACATGCTATAGAGTGTTTTATTGCCTAGTTGACAGAGCTGCTTTTGAATGCTGGTGGTCCTGTTCCTTTGACCCTACGTACTTTTATAATATGTGTTCATGCTATATGACAAAATGCTGTGATTCCTAGTGCCAAAGGTTCAATTCAGTGTATATAACTGAACACACTCATCCATTTGTGCTCCTTTTTTTTTTTTAAATGGTGCTTAAATAGCCCATTCTTTGCAAGTCATCCATGTTGTTCCTTTGGCATTTAACTTTGCTCAAATTGTTGAAGAATGGTGGCTTGTTGCATGGTTTTTGTATTTGTGTCTAGTGCACATTTTAACATGGTAGATGAGATGCATTGTGTAGCTAGTTTTCTGGAAAAGTCAATCTTTTAGGAATTATTTTTCAAATCTTCAATAAATTTTTTCTTTAAATTTTAAATAAATAAATGAGTCAAAAGTCATTGAGGAACCAATATGACATGTGAAAGGATAACATAAGATTAGAAAAATTCAGAAATGACTCACGCCTATAATCCCAGCAC",
          "start": 956,
          "startIntronDirection": "+",
          "startIntronOffset": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006698",
      "geneNCBI_id": 4040,
      "geneSymbol": "LRP6",
      "hgvs": [
        "NM_002336.3:c.647+2237_647+4406del"
      ],
      "proteinEffect": {
        "hgvs": "NP_002327.2:n.647+2237_647+4406del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665472",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261349.9:c.647+2237_647+4406del"
          },
          "RefSeq": {
            "hgvs": "NM_002336.3:c.647+2237_647+4406del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261349.4:n.647+2237_647+4406del"
          },
          "RefSeq": {
            "hgvs": "NP_002327.2:n.647+2237_647+4406del"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}