{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8669483",
  "communityStandardTitle": [
    "NM_017777.4(MKS1):c.516-10T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275383[alleleid]",
        "alleleId": 275383,
        "preferredName": "NM_017777.4(MKS1):c.516-10T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291146",
        "RCV": [
          "RCV000274540",
          "RCV001084697",
          "RCV004543149"
        ],
        "variationId": 291146
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-56291758-A-G",
        "id": "17-56291758-A-G",
        "variant": "17:56291758 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.56291758A>G?assembly=hg19",
        "id": "chr17:g.56291758A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.58214397A>G?assembly=hg38",
        "id": "chr17:g.58214397A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375046501",
        "rs": 375046501
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-56291758-A-G?dataset=gnomad_r2_1",
        "id": "17-56291758-A-G",
        "variant": "17:56291758 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58214397-A-G?dataset=gnomad_r3",
        "id": "17-58214397-A-G",
        "variant": "17:58214397 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-58214397-A-G?dataset=gnomad_r4",
        "id": "17-58214397-A-G",
        "variant": "17:58214397 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 58214397,
          "referenceAllele": "A",
          "start": 58214396
        }
      ],
      "hgvs": [
        "NC_000017.11:g.58214397A>G",
        "CM000679.2:g.58214397A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 56291758,
          "referenceAllele": "A",
          "start": 56291757
        }
      ],
      "hgvs": [
        "NC_000017.10:g.56291758A>G",
        "CM000679.1:g.56291758A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 53646757,
          "referenceAllele": "A",
          "start": 53646756
        }
      ],
      "hgvs": [
        "NC_000017.9:g.53646757A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10209,
          "referenceAllele": "T",
          "start": 10208
        }
      ],
      "hgvs": [
        "NG_013032.1:g.10209T>C",
        "LRG_687:g.10209T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002676"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.11:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745890"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.7:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.516-10T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.516-10T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:n.516-10T>C"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:n.516-10T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.7:c.87-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.3:n.87-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759532"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000580127.6:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462423.2:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760873"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000581761.6:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462129.2:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000585134.2:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000463826.2:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760984"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 600,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000675753.2:c.*135-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502156.1:n.*135-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "+",
          "endIntronOffset": 344,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "+",
          "startIntronOffset": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000676787.1:c.515+344T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503999.1:n.515+344T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776459"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 380,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 380,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000676975.1:c.381-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503970.1:n.381-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 1789,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677076.1:n.1790-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776744"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677111.1:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504282.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1789,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 1789,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677160.1:n.1790-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677416.1:n.541-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1792,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 1792,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677475.1:n.1793-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777137"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 286,
          "endIntronDirection": "-",
          "endIntronOffset": 527,
          "referenceAllele": "T",
          "start": 286,
          "startIntronDirection": "-",
          "startIntronOffset": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677486.1:c.262-528T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503852.1:n.262-528T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 527,
          "referenceAllele": "T",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677546.1:c.418-528T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504043.1:n.418-528T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777207"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677709.1:n.541-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 543,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 543,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000677791.1:n.544-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777443"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678011.1:n.541-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777661"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2555,
          "referenceAllele": "T",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678211.1:n.2555T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777860"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 600,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 600,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678432.1:c.*135-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504452.1:n.*135-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678463.1:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502984.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778108"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 445,
          "endIntronDirection": "-",
          "endIntronOffset": 527,
          "referenceAllele": "T",
          "start": 445,
          "startIntronDirection": "-",
          "startIntronOffset": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678481.1:n.446-528T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 303,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678568.1:c.289-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504754.1:n.289-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778209"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 527,
          "referenceAllele": "T",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678641.1:c.418-528T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503159.1:n.418-528T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2133,
          "referenceAllele": "T",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000678928.1:n.2133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2133,
          "referenceAllele": "T",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000679081.1:n.2133T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778716"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 517,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 517,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000313863.10:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000316631.6:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256877"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393119.6:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376827.2:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275464"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000393120.6:c.418-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376828.2:n.418-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275465"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000537529.6:c.486-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000442096.2:n.486-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360820"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 428,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000578789.1:c.*259-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462411.1:n.*259-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 650,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 650,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000580127.5:c.*135-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462423.1:n.*135-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386183"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 303,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 303,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "ENST00000581761.5:c.289-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462129.1:n.289-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 579,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001165927.1:c.486-10T>C",
        "LRG_687t2:c.486-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159399.1:n.486-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.3:c.516-10T>C",
        "LRG_687t1:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035184"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 576,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 576,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257483.3:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257540.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 571,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 571,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.3:c.87-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:n.87-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 424,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257486.3:c.-94-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257543.1:n.-94-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 424,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.2:c.-94-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:n.-94-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.1:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092076"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.1:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092077"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.1:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092078"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524960.1:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523262.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092079"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 572,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 572,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_934494.1:n.573-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129807"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 492,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 492,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.1:c.-94-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:n.-94-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514168"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.1:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 590,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 590,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.1:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 604,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 604,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_005257485.4:c.87-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257542.1:n.87-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534667"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_006721965.3:c.-94-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722028.1:n.-94-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 570,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524957.2:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523259.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547670"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 570,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 570,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524958.2:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523260.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547671"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524959.2:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523261.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_011524960.2:c.525-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523262.1:n.525-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 560,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024804.2:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880293.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575279"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 604,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 604,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XM_017024805.1:c.87-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880294.1:n.87-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575280"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 569,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "XR_002958042.1:n.570-10T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604169"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 442,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 442,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321268.2:c.-94-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308197.1:n.-94-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685282"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001321269.2:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308198.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685283"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_001330397.2:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317326.1:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 9,
          "referenceAllele": "T",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NM_017777.4:c.516-10T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060247.2:n.516-10T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393119.7:c.516-10T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017777.4:c.516-10T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376827.2:n.516-10T>C"
          },
          "RefSeq": {
            "hgvs": "NP_060247.2:n.516-10T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}