{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10602795",
  "communityStandardTitle": [
    "NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264026[alleleid]",
        "alleleId": 264026,
        "preferredName": "NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280607",
        "RCV": [
          "RCV000394703",
          "RCV001563695"
        ],
        "variationId": 280607
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27875719G>A?assembly=hg19",
        "id": "chr1:g.27875719G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27549208G>A?assembly=hg38",
        "id": "chr1:g.27549208G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886041781",
        "rs": 886041781
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27549208,
          "referenceAllele": "G",
          "start": 27549207
        }
      ],
      "hgvs": [
        "NC_000001.11:g.27549208G>A",
        "CM000663.2:g.27549208G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27875719,
          "referenceAllele": "G",
          "start": 27875718
        }
      ],
      "hgvs": [
        "NC_000001.10:g.27875719G>A",
        "CM000663.1:g.27875719G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27748306,
          "referenceAllele": "G",
          "start": 27748305
        }
      ],
      "hgvs": [
        "NC_000001.9:g.27748306G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59287,
          "referenceAllele": "C",
          "start": 59286
        }
      ],
      "hgvs": [
        "NG_034158.1:g.59287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3506,
          "referenceAllele": "C",
          "start": 3505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.10:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3809,
          "referenceAllele": "C",
          "start": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642245.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495072.1:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000495072.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3531,
          "referenceAllele": "C",
          "start": 3530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642416.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494394.1:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000494394.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3512,
          "referenceAllele": "C",
          "start": 3511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000644989.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495665.1:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000495665.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3809,
          "referenceAllele": "C",
          "start": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000673934.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501218.1:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000501218.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.2908C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.2908C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln970Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln970Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3505,
          "referenceAllele": "C",
          "start": 3504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.9:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3877,
          "referenceAllele": "C",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000374011.6:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363123.2:p.Gln970Ter",
        "hgvsWellDefined": "ENSP00000363123.2:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645442939",
      "coordinates": [
        {
          "allele": "T",
          "end": 3739,
          "referenceAllele": "C",
          "start": 3738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001029882.3:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025053.1:p.Gln970Ter",
        "hgvsWellDefined": "NP_001025053.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3864,
          "referenceAllele": "C",
          "start": 3863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245905.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3969,
          "referenceAllele": "C",
          "start": 3968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245906.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3989,
          "referenceAllele": "C",
          "start": 3988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245907.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3861,
          "referenceAllele": "C",
          "start": 3860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245908.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3638,
          "referenceAllele": "C",
          "start": 3637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245909.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3653,
          "referenceAllele": "C",
          "start": 3652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541255.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539557.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011539557.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3983,
          "referenceAllele": "C",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011539558.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3561,
          "referenceAllele": "C",
          "start": 3560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011539559.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3865,
          "referenceAllele": "C",
          "start": 3864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.1:n.3865C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3974,
          "referenceAllele": "C",
          "start": 3973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.3:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245905.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4079,
          "referenceAllele": "C",
          "start": 4078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.3:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245906.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4099,
          "referenceAllele": "C",
          "start": 4098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.3:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245907.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3971,
          "referenceAllele": "C",
          "start": 3970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.3:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245908.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3748,
          "referenceAllele": "C",
          "start": 3747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.3:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_005245909.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4093,
          "referenceAllele": "C",
          "start": 4092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011539558.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4848,
          "referenceAllele": "C",
          "start": 4847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.2:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_011539559.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4056,
          "referenceAllele": "C",
          "start": 4055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_024446461.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302229.1:p.Gln970Ter",
        "hgvsWellDefined": "XP_024302229.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3975,
          "referenceAllele": "C",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.2:n.3975C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072532",
      "coordinates": [
        {
          "allele": "T",
          "end": 3809,
          "referenceAllele": "C",
          "start": 3808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001371928.1:c.2908C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358857.1:p.Gln970Ter",
        "hgvsWellDefined": "NP_001358857.1:p.Gln970_Leu1603delinsTyrGlyGlyTyrGlyAlaGlyGlnSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.2908C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.2908C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln970Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln970Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}