{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA373852950",
  "communityStandardTitle": [
    "NM_033305.3(VPS13A):c.7072C>T (p.Gln2358Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1469529[alleleid]",
        "alleleId": 1469529,
        "preferredName": "NM_033305.3(VPS13A):c.7072C>T (p.Gln2358Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1350569",
        "RCV": [
          "RCV002041960"
        ],
        "variationId": 1350569
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.79959114C>T?assembly=hg19",
        "id": "chr9:g.79959114C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.77344198C>T?assembly=hg38",
        "id": "chr9:g.77344198C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/981025037",
        "rs": 981025037
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-77344198-C-T?dataset=gnomad_r4",
        "id": "9-77344198-C-T",
        "variant": "9:77344198 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 77344198,
          "referenceAllele": "C",
          "start": 77344197
        }
      ],
      "hgvs": [
        "NC_000009.12:g.77344198C>T",
        "CM000671.2:g.77344198C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 79959114,
          "referenceAllele": "C",
          "start": 79959113
        }
      ],
      "hgvs": [
        "NC_000009.11:g.79959114C>T",
        "CM000671.1:g.79959114C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 79148934,
          "referenceAllele": "C",
          "start": 79148933
        }
      ],
      "hgvs": [
        "NC_000009.10:g.79148934C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171754,
          "referenceAllele": "C",
          "start": 171753
        }
      ],
      "hgvs": [
        "NG_008931.1:g.171754C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001309"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7243,
          "referenceAllele": "C",
          "start": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000360280.8:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353422.3:p.Gln2358Ter",
        "hgvsWellDefined": "ENSP00000353422.3:p.Gln2358_Leu3174delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749295",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360280.8:c.7072C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033305.3:c.7072C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353422.3:p.Gln2358Ter"
          },
          "RefSeq": {
            "hgvs": "NP_150648.2:p.Gln2358Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7241,
          "referenceAllele": "C",
          "start": 7240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000643348.1:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493592.1:p.Gln2358Ter",
        "hgvsWellDefined": "ENSP00000493592.1:p.Gln2358_His3095delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7241,
          "referenceAllele": "C",
          "start": 7240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000645632.1:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496361.1:p.Gln2358Ter",
        "hgvsWellDefined": "ENSP00000496361.1:p.Gln2358_Ile3069delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7243,
          "referenceAllele": "C",
          "start": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000357409.9:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349985.5:p.Gln2358Ter",
        "hgvsWellDefined": "ENSP00000349985.5:p.Gln2358_His3095delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7332,
          "referenceAllele": "C",
          "start": 7331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000360280.7:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000353422.3:p.Gln2358Ter",
        "hgvsWellDefined": "ENSP00000353422.3:p.Gln2358_Leu3174delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265076"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7424,
          "referenceAllele": "C",
          "start": 7423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000376634.8:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365821.4:p.Gln2358Ter",
        "hgvsWellDefined": "ENSP00000365821.4:p.Gln2358_Ile3069delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7215,
          "referenceAllele": "C",
          "start": 7214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "ENST00000376636.7:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000365823.3:p.Gln2319Ter",
        "hgvsWellDefined": "ENSP00000365823.3:p.Gln2319_Leu3135delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271250"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825323284",
      "coordinates": [
        {
          "allele": "T",
          "end": 7215,
          "referenceAllele": "C",
          "start": 7214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018037.1:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018047.1:p.Gln2319Ter",
        "hgvsWellDefined": "NP_001018047.1:p.Gln2319_Leu3135delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825324860",
      "coordinates": [
        {
          "allele": "T",
          "end": 7332,
          "referenceAllele": "C",
          "start": 7331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018038.2:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018048.1:p.Gln2358Ter",
        "hgvsWellDefined": "NP_001018048.1:p.Gln2358_Ile3069delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829812701",
      "coordinates": [
        {
          "allele": "T",
          "end": 7332,
          "referenceAllele": "C",
          "start": 7331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_015186.3:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056001.1:p.Gln2358Ter",
        "hgvsWellDefined": "NP_056001.1:p.Gln2358_His3095delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573301182",
      "coordinates": [
        {
          "allele": "T",
          "end": 7332,
          "referenceAllele": "C",
          "start": 7331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_033305.2:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_150648.2:p.Gln2358Ter",
        "hgvsWellDefined": "NP_150648.2:p.Gln2358_Leu3174delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7424,
          "referenceAllele": "C",
          "start": 7423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_242579.2:n.7424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7424,
          "referenceAllele": "C",
          "start": 7423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_242580.3:n.7424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7424,
          "referenceAllele": "C",
          "start": 7423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_929740.1:n.7424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125869"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7424,
          "referenceAllele": "C",
          "start": 7423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_001746259.1:n.7424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7424,
          "referenceAllele": "C",
          "start": 7423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "XR_001746260.1:n.7424C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573301182",
      "coordinates": [
        {
          "allele": "T",
          "end": 7243,
          "referenceAllele": "C",
          "start": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_033305.3:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_150648.2:p.Gln2358Ter",
        "hgvsWellDefined": "NP_150648.2:p.Gln2358_Leu3174delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671547",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000360280.8:c.7072C>T"
          },
          "RefSeq": {
            "hgvs": "NM_033305.3:c.7072C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000353422.3:p.Gln2358Ter"
          },
          "RefSeq": {
            "hgvs": "NP_150648.2:p.Gln2358Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825323284",
      "coordinates": [
        {
          "allele": "T",
          "end": 7126,
          "referenceAllele": "C",
          "start": 7125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018037.2:c.6955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018047.1:p.Gln2319Ter",
        "hgvsWellDefined": "NP_001018047.1:p.Gln2319_Leu3135delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnValMetGluAsnGlyArgPheAlaLysTyrLysTyrPheThrHisValMetIleAsnLysThrAspMetLeuMetIleThrArgArgGlyValLeuPheValThrLysGlyThrPheGlyGlnLeuThrCysGluTrpGlnTyrSerPheAspGluPheThrLysGluProPheIleValHisGlyArgArgLeuArgIleGluAlaLysGluArgValLysSerValPheHisAlaArgGluPheGlyLysIleIleAsnPheLysThrProGluAspAlaArgTrpIleLeuThrLysLeuGlnGluAlaArgGluProSerProSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675578"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825324860",
      "coordinates": [
        {
          "allele": "T",
          "end": 7243,
          "referenceAllele": "C",
          "start": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_001018038.3:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001018048.1:p.Gln2358Ter",
        "hgvsWellDefined": "NP_001018048.1:p.Gln2358_Ile3069delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnAlaSerLysSerLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829812701",
      "coordinates": [
        {
          "allele": "T",
          "end": 7243,
          "referenceAllele": "C",
          "start": 7242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NM_015186.4:c.7072C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056001.1:p.Gln2358Ter",
        "hgvsWellDefined": "NP_056001.1:p.Gln2358_His3095delinsValGluArgSerGluAspProProLysArgIleTyrPheAsnLysGlnGluAsnCysIleLeuLeuArgLeuAspAsnGluLeuGlyGlyIleIleAlaGluValAsnLeuAlaGluHisSerThrValIleThrPheLeuAspTyrHisAspGlyAlaAlaThrPheLeuLeuIleAsnHisThrLysAsnGluLeuValGlnTyrAsnGlnSerSerLeuSerGluIleGluAspSerLeuProProGlyLysAlaValPheTyrThrTrpAlaAspProValGlySerArgArgLeuLysTrpArgCysArgLysSerHisGlyGluValThrGlnLysAspAspMetMetMetProIleAspLeuGlyGluLysThrIleTyrLeuValSerPhePheGluGlyLeuGlnArgIleIleLeuPheThrGluAspProArgValPheLysValThrTyrGluSerGluLysAlaGluLeuAlaGluGlnGluIleAlaValAlaLeuGlnAspValGlyIleSerLeuValAsnAsnTyrThrLysGlnGluValAlaTyrIleGlyIleThrSerSerAspValValTrpGluThrLysProLysLysLysAlaArgTrpLysProMetSerValLysHisThrGluLysLeuGluArgGluPheLysGluTyrThrGluSerSerProSerGluAspLysValIleGlnLeuAspThrAsnValProValArgLeuThrProThrGlyHisAsnMetLysIleLeuGlnProHisValIleAlaLeuArgArgAsnTyrLeuProAlaLeuLysValGluTyrAsnThrSerAlaHisGlnSerSerPheArgIleGlnIleTyrArgIleGlnIleGlnAsnGlnIleHisGlyAlaValPheProPheValPheTyrProValLysProProLysSerValThrMetAspSerAlaProLysProPheThrAspValSerIleValMetArgSerAlaGlyHisSerGlnIleSerArgIleLysTyrPheLysValLeuIleGlnGluMetAspLeuArgLeuAspLeuGlyPheIleTyrAlaLeuThrAspLeuMetThrGluAlaGluValThrGluAsnThrGluValGluLeuPheHisLysAspIleGluAlaPheLysGluGluTyrLysThrAlaSerLeuValAspGlnSerGlnValSerLeuTyrGluTyrPheHisIleSerProIleLysLeuHisLeuSerValSerLeuSerSerGlyArgGluGluAlaLysAspSerLysGlnAsnGlyGlyLeuIleProValHisSerLeuAsnLeuLeuLeuLysSerIleGlyAlaThrLeuThrAspValGlnAspValValPheLysLeuAlaPhePheGluLeuAsnTyrGlnPheHisThrThrSerAspLeuGlnSerGluValIleArgHisTyrSerLysGlnAlaIleLysGlnMetTyrValLeuIleLeuGlyLeuAspValLeuGlyAsnProPheGlyLeuIleArgGluPheSerGluGlyValGluAlaPhePheTyrGluProTyrGlnGlyAlaIleGlnGlyProGluGluPheValGluGlyMetAlaLeuGlyLeuLysAlaLeuValGlyGlyAlaValGlyGlyLeuAlaGlyAlaAlaSerLysIleThrGlyAlaMetAlaLysGlyValAlaAlaMetThrMetAspGluAspTyrGlnGlnLysArgArgGluAlaMetAsnLysGlnProAlaGlyPheArgGluGlyIleThrArgGlyGlyLysGlyLeuValSerGlyPheValSerGlyIleThrGlyIleValThrLysProIleLysGlyAlaGlnLysGlyGlyAlaAlaGlyPhePheLysGlyValGlyLysGlyLeuValGlyAlaValAlaArgProThrGlyGlyIleIleAspMetAlaSerSerThrPheGlnGlyIleLysArgAlaThrGluThrSerGluValGluSerLeuArgProProArgPhePheAsnGluAspGlyValIleArgProTyrArgLeuArgAspGlyThrGlyAsnGlnMetLeuGlnLysIleGlnPheTyrArgGluTrpIleMetThrHisSerSerSerSerAspAspAspAspAspAspAspAspAspAspGluSerAspLeuAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728041"
    }
  ],
  "type": "nucleotide"
}