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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA210078",
  "communityStandardTitle": [
    "NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3670742",
        "active": true,
        "id": "COSM3670742"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213818[alleleid]",
        "alleleId": 213818,
        "preferredName": "NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217143",
        "RCV": [
          "RCV000201148",
          "RCV000521518",
          "RCV001853222",
          "RCV004541281"
        ],
        "variationId": 217143
      }
    ],
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      {
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        "variant": "11:22276946 C / T"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.22276946C>T?assembly=hg19",
        "id": "chr11:g.22276946C>T"
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    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr11:g.22255400C>T?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/566415362",
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    "gnomAD_4": [
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      "referenceGenome": "GRCh38",
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      "referenceSequence": "http://reg.genome.network/refseq/RS827261"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS827333"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "start": 1688
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      ],
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        "hgvs": "ENSP00000506805.1:n.*1142C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827520"
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      "referenceSequence": "http://reg.genome.network/refseq/RS828179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN027337",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 1431
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS828414"
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS828585"
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    {
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          "allele": "T",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS828802"
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    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN027337",
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      "proteinEffect": {
        "hgvs": "ENSP00000508009.1:p.Arg389Ter",
        "hgvsWellDefined": "ENSP00000508009.1:p.Arg389_Leu898delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000324559.9:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315371.9:p.Arg404Ter",
        "hgvsWellDefined": "ENSP00000315371.9:p.Arg404_Leu913delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746641",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324559.9:c.1210C>T"
          },
          "RefSeq": {
            "hgvs": "NM_213599.3:c.1210C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315371.9:p.Arg404Ter"
          },
          "RefSeq": {
            "hgvs": "NP_998764.1:p.Arg404Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000648804.1:n.1545C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "ENST00000324559.8:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000315371.8:p.Arg404Ter",
        "hgvsWellDefined": "ENSP00000315371.8:p.Arg404_Leu913delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258364"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809321",
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_001142649.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136121.1:p.Arg403Ter",
        "hgvsWellDefined": "NP_001136121.1:p.Arg403_Leu912delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210080",
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_213599.2:c.1210C>T",
        "LRG_868t1:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_998764.1:p.Arg404Ter",
        "hgvsWellDefined": "NP_998764.1:p.Arg404_Leu913delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1651,
          "referenceAllele": "C",
          "start": 1650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252820.2:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252877.2:p.Arg390Ter",
        "hgvsWellDefined": "XP_005252877.2:p.Arg390_Leu899delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252821.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252878.2:p.Arg389Ter",
        "hgvsWellDefined": "XP_005252878.2:p.Arg389_Leu898delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252822.3:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252879.1:p.Arg378Ter",
        "hgvsWellDefined": "XP_005252879.1:p.Arg378_Leu887delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252823.3:c.1129C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252880.1:p.Arg377Ter",
        "hgvsWellDefined": "XP_005252880.1:p.Arg377_Leu886delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_011519949.1:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518251.1:p.Arg373Ter",
        "hgvsWellDefined": "XP_011518251.1:p.Arg373_Leu882delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252820.3:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252877.2:p.Arg390Ter",
        "hgvsWellDefined": "XP_005252877.2:p.Arg390_Leu899delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1628,
          "referenceAllele": "C",
          "start": 1627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252821.3:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252878.2:p.Arg389Ter",
        "hgvsWellDefined": "XP_005252878.2:p.Arg389_Leu898delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1412,
          "referenceAllele": "C",
          "start": 1411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_005252822.4:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252879.1:p.Arg378Ter",
        "hgvsWellDefined": "XP_005252879.1:p.Arg378_Leu887delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1580,
          "referenceAllele": "C",
          "start": 1579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "XM_011519949.2:c.1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518251.1:p.Arg373Ter",
        "hgvsWellDefined": "XP_011518251.1:p.Arg373_Leu882delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545537"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825809321",
      "coordinates": [
        {
          "allele": "T",
          "end": 1615,
          "referenceAllele": "C",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_001142649.2:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001136121.1:p.Arg403Ter",
        "hgvsWellDefined": "NP_001136121.1:p.Arg403_Leu912delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA210080",
      "coordinates": [
        {
          "allele": "T",
          "end": 1618,
          "referenceAllele": "C",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NM_213599.3:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_998764.1:p.Arg404Ter",
        "hgvsWellDefined": "NP_998764.1:p.Arg404_Leu913delinsGlnAlaArgLeuGluTyrGluTrpAspLeuValAspPheGluGluGluGlnGlnGlnLeuGlnLeuArgProGluPheGluAlaMetCysLysHisArgLysLeuAsnAlaValThrLysGluMetGluProTyrMetProLeuTyrThrArgIleProTrpTyrPheLeuSerGlyAlaThrValThrLeuTrpMetSerLeuValValThrSerMetValAlaValIleValTyrArgLeuSerValPheAlaThrPheAlaSerPheMetGluSerAspAlaSerLeuLysGlnValLysSerPheLeuThrProGlnIleThrThrSerLeuThrGlySerCysLeuAsnPheIleValIleLeuIleLeuAsnPhePheTyrGluLysIleSerAlaTrpIleThrLysMetGluIleProArgThrTyrGlnGluTyrGluSerSerLeuThrLeuLysMetPheLeuPheGlnPheValAsnPheTyrSerSerCysPheTyrValAlaPhePheLysGlyLysPheValGlyTyrProGlyLysTyrThrTyrLeuPheAsnGluTrpArgSerGluGluCysAspProGlyGlyCysLeuIleGluLeuThrThrGlnLeuThrIleIleMetThrGlyLysGlnIlePheGlyAsnIleLysGluAlaIleTyrProLeuAlaLeuAsnTrpTrpArgArgArgLysAlaArgThrAsnSerGluLysLeuTyrSerArgTrpGluGlnAspHisAspLeuGluSerPheGlyProLeuGlyLeuPheTyrGluTyrLeuGluThrValThrGlnPheGlyPheValThrLeuPheValAlaSerPheProLeuAlaProLeuLeuAlaLeuIleAsnAsnIleValGluIleArgValAspAlaTrpLysLeuThrThrGlnTyrArgArgThrValAlaSerLysAlaHisSerIleGlyValTrpGlnAspIleLeuTyrGlyMetAlaValLeuSerValAlaThrAsnAlaPheIleValAlaPheThrSerAspIleIleProArgLeuValTyrTyrTyrAlaTyrSerThrAsnAlaThrGlnProMetThrGlyTyrValAsnAsnSerLeuSerValPheLeuIleAlaAspPheProAsnHisThrAlaProSerGluLysArgAspPheIleThrCysArgTyrArgAspTyrArgTyrProProAspAspGluAsnLysTyrPheHisAsnMetGlnPheTrpHisValLeuAlaAlaLysMetThrPheIleIleValMetGluHisValValPheLeuValLysPheLeuLeuAlaTrpMetIleProAspValProLysAspValValGluArgIleLysArgGluLysLeuMetThrIleLysIleLeuHisAspPheGluLeuAsnLysLeuLysGluAsnLeuGlyIleAsnSerAsnGluPheAlaLysHisValMetIleGluGluAsnLysAlaGlnLeuAlaLysSerThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701806",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324559.9:c.1210C>T"
          },
          "RefSeq": {
            "hgvs": "NM_213599.3:c.1210C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000315371.9:p.Arg404Ter"
          },
          "RefSeq": {
            "hgvs": "NP_998764.1:p.Arg404Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}