{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339229031",
  "communityStandardTitle": [
    "NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=984638[alleleid]",
        "alleleId": 984638,
        "preferredName": "NM_001371928.1(AHDC1):c.2932C>T (p.Gln978Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996930",
        "RCV": [
          "RCV001563696"
        ],
        "variationId": 996930
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27875695G>A?assembly=hg19",
        "id": "chr1:g.27875695G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27549184G>A?assembly=hg38",
        "id": "chr1:g.27549184G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2148272898",
        "rs": 2148272898
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-27549184-G-A?dataset=gnomad_r4",
        "id": "1-27549184-G-A",
        "variant": "1:27549184 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27549184,
          "referenceAllele": "G",
          "start": 27549183
        }
      ],
      "hgvs": [
        "NC_000001.11:g.27549184G>A",
        "CM000663.2:g.27549184G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27875695,
          "referenceAllele": "G",
          "start": 27875694
        }
      ],
      "hgvs": [
        "NC_000001.10:g.27875695G>A",
        "CM000663.1:g.27875695G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27748282,
          "referenceAllele": "G",
          "start": 27748281
        }
      ],
      "hgvs": [
        "NC_000001.9:g.27748282G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59311,
          "referenceAllele": "C",
          "start": 59310
        }
      ],
      "hgvs": [
        "NG_034158.1:g.59311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3530,
          "referenceAllele": "C",
          "start": 3529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.10:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln978Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3833,
          "referenceAllele": "C",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642245.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495072.1:p.Gln978Ter",
        "hgvsWellDefined": "ENSP00000495072.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3555,
          "referenceAllele": "C",
          "start": 3554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642416.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494394.1:p.Gln978Ter",
        "hgvsWellDefined": "ENSP00000494394.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3536,
          "referenceAllele": "C",
          "start": 3535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000644989.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495665.1:p.Gln978Ter",
        "hgvsWellDefined": "ENSP00000495665.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3833,
          "referenceAllele": "C",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000673934.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501218.1:p.Gln978Ter",
        "hgvsWellDefined": "ENSP00000501218.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.2932C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.2932C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln978Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln978Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3529,
          "referenceAllele": "C",
          "start": 3528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.9:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln978Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3901,
          "referenceAllele": "C",
          "start": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000374011.6:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363123.2:p.Gln978Ter",
        "hgvsWellDefined": "ENSP00000363123.2:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344101",
      "coordinates": [
        {
          "allele": "T",
          "end": 3763,
          "referenceAllele": "C",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001029882.3:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025053.1:p.Gln978Ter",
        "hgvsWellDefined": "NP_001025053.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3888,
          "referenceAllele": "C",
          "start": 3887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.2:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245905.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3993,
          "referenceAllele": "C",
          "start": 3992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.2:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245906.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4013,
          "referenceAllele": "C",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.2:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245907.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3885,
          "referenceAllele": "C",
          "start": 3884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.2:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245908.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3662,
          "referenceAllele": "C",
          "start": 3661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.2:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245909.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3677,
          "referenceAllele": "C",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541255.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539557.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_011539557.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4007,
          "referenceAllele": "C",
          "start": 4006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_011539558.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3585,
          "referenceAllele": "C",
          "start": 3584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_011539559.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3889,
          "referenceAllele": "C",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.1:n.3889C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3998,
          "referenceAllele": "C",
          "start": 3997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.3:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245905.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4103,
          "referenceAllele": "C",
          "start": 4102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.3:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245906.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4123,
          "referenceAllele": "C",
          "start": 4122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.3:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245907.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3995,
          "referenceAllele": "C",
          "start": 3994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.3:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245908.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3772,
          "referenceAllele": "C",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.3:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_005245909.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4117,
          "referenceAllele": "C",
          "start": 4116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.2:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_011539558.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4872,
          "referenceAllele": "C",
          "start": 4871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.2:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_011539559.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4080,
          "referenceAllele": "C",
          "start": 4079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_024446461.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302229.1:p.Gln978Ter",
        "hgvsWellDefined": "XP_024302229.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3999,
          "referenceAllele": "C",
          "start": 3998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.2:n.3999C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499254710",
      "coordinates": [
        {
          "allele": "T",
          "end": 3833,
          "referenceAllele": "C",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001371928.1:c.2932C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358857.1:p.Gln978Ter",
        "hgvsWellDefined": "NP_001358857.1:p.Gln978_Leu1603delinsSerValPheAlaProThrLysProPheThrGlyGlnAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.2932C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.2932C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln978Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln978Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}