{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA268639556",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063225[alleleid]",
        "alleleId": 1063225,
        "preferredName": "NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075166",
        "RCV": [
          "RCV001388687",
          "RCV003473989"
        ],
        "variationId": 1075166
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34546775G>A?assembly=hg19",
        "id": "chr15:g.34546775G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34254574G>A?assembly=hg38",
        "id": "chr15:g.34254574G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/897661402",
        "rs": 897661402
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34254574-G-A?dataset=gnomad_r3",
        "id": "15-34254574-G-A",
        "variant": "15:34254574 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34254574-G-A?dataset=gnomad_r4",
        "id": "15-34254574-G-A",
        "variant": "15:34254574 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 34254574,
          "referenceAllele": "G",
          "start": 34254573
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34254574G>A",
        "CM000677.2:g.34254574G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 34546775,
          "referenceAllele": "G",
          "start": 34546774
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34546775G>A",
        "CM000677.1:g.34546775G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 32334067,
          "referenceAllele": "G",
          "start": 32334066
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32334067G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88491,
          "referenceAllele": "C",
          "start": 88490
        }
      ],
      "hgvs": [
        "NG_007951.1:g.88491C>T",
        "LRG_270:g.88491C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000346112.3:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.892C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.892C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg298Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg298Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000675289.1:n.1674C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000502539.1:p.Arg298_Leu1142delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnCysSerValThrMetGluIleValPheGlyLysLysLeuGlnAlaGlyCysArgGlySerHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Arg247Ter",
        "hgvsWellDefined": "ENSP00000290209.5:p.Arg247_Ser1099delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1385,
          "referenceAllele": "C",
          "start": 1384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000346112.3:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Arg239Ter",
        "hgvsWellDefined": "ENSP00000380814.2:p.Arg239_Ser1091delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Arg283Ter",
        "hgvsWellDefined": "ENSP00000380819.2:p.Arg283_Ser1135delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Arg239Ter",
        "hgvsWellDefined": "ENSP00000387725.2:p.Arg239_Ser1091delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Arg289Ter",
        "hgvsWellDefined": "ENSP00000452776.1:p.Arg289_Ser1141delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000453473.1:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:p.Arg239Ter",
        "hgvsWellDefined": "ENSP00000452904.1:p.Arg239_Leu942delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetValArgLysLeuSerLeuArgTyrLysSerMetThrValIleTyrGlnHisIleLeuThrSerAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1998,
          "referenceAllele": "C",
          "start": 1997
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000453702.1:p.Arg298_Tyr906delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.328C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:p.Arg110Ter",
        "hgvsWellDefined": "ENSP00000452705.1:p.Arg110_Ser962delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000454168.1:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:p.Arg298Ter",
        "hgvsWellDefined": "ENSP00000454069.1:p.Arg298_Tyr906delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407771",
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg239Ter",
        "hgvsWellDefined": "NP_001035959.1:p.Arg239_Ser1091delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408498",
      "coordinates": [
        {
          "allele": "T",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg239Ter",
        "hgvsWellDefined": "NP_001035960.1:p.Arg239_Ser1091delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409266",
      "coordinates": [
        {
          "allele": "T",
          "end": 1308,
          "referenceAllele": "C",
          "start": 1307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg289Ter",
        "hgvsWellDefined": "NP_001035961.1:p.Arg289_Ser1141delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825410036",
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg283Ter",
        "hgvsWellDefined": "NP_001035962.1:p.Arg283_Ser1135delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583236",
      "coordinates": [
        {
          "allele": "T",
          "end": 881,
          "referenceAllele": "C",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.739C>T",
        "LRG_270t1:c.739C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Arg247Ter",
        "hgvsWellDefined": "NP_005126.1:p.Arg247_Ser1099delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499296839",
      "coordinates": [
        {
          "allele": "T",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.892C>T",
        "LRG_270t2:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg298Ter",
        "hgvsWellDefined": "NP_598408.1:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg249Ter",
        "hgvsWellDefined": "XP_006720856.1:p.Arg249_Ser1101delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Arg298Ter",
        "hgvsWellDefined": "XP_011520569.1:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Arg298Ter",
        "hgvsWellDefined": "XP_011520570.1:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Arg298Ter",
        "hgvsWellDefined": "XP_011520571.1:p.Arg298_His680delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.898C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.898C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 898,
          "referenceAllele": "C",
          "start": 897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931961.1:n.898C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828165447",
      "coordinates": [
        {
          "allele": "T",
          "end": 1414,
          "referenceAllele": "C",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Arg298Ter",
        "hgvsWellDefined": "NP_001352017.1:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.892C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.892C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Arg298Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Arg298Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1992,
          "referenceAllele": "C",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Arg249Ter",
        "hgvsWellDefined": "XP_006720856.1:p.Arg249_Ser1101delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.3:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Arg298Ter",
        "hgvsWellDefined": "XP_011520571.1:p.Arg298_His680delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2142,
          "referenceAllele": "C",
          "start": 2141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.2142C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407771",
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Arg239Ter",
        "hgvsWellDefined": "NP_001035959.1:p.Arg239_Ser1091delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408498",
      "coordinates": [
        {
          "allele": "T",
          "end": 910,
          "referenceAllele": "C",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.715C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Arg239Ter",
        "hgvsWellDefined": "NP_001035960.1:p.Arg239_Ser1091delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409266",
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Arg289Ter",
        "hgvsWellDefined": "NP_001035961.1:p.Arg289_Ser1141delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825410036",
      "coordinates": [
        {
          "allele": "T",
          "end": 1183,
          "referenceAllele": "C",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.847C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Arg283Ter",
        "hgvsWellDefined": "NP_001035962.1:p.Arg283_Ser1135delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499296839",
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.892C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Arg298Ter",
        "hgvsWellDefined": "NP_598408.1:p.Arg298_Ser1150delinsAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}