{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16041724", "communityStandardTitle": [ "NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358290[alleleid]", "alleleId": 358290, "preferredName": "NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370396", "RCV": [ "RCV000409680" ], "variationId": 370396 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34549878G>A?assembly=hg19", "id": "chr15:g.34549878G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34257677G>A?assembly=hg38", "id": "chr15:g.34257677G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516456", "rs": 1057516456 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-34257677-G-A?dataset=gnomad_r4", "id": "15-34257677-G-A", "variant": "15:34257677 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 34257677, "referenceAllele": "G", "start": 34257676 } ], "hgvs": [ "NC_000015.10:g.34257677G>A", "CM000677.2:g.34257677G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 34549878, "referenceAllele": "G", "start": 34549877 } ], "hgvs": [ "NC_000015.9:g.34549878G>A", "CM000677.1:g.34549878G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 32337170, "referenceAllele": "G", "start": 32337169 } ], "hgvs": [ "NC_000015.8:g.32337170G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 85388, "referenceAllele": "C", "start": 85387 } ], "hgvs": [ "NG_007951.1:g.85388C>T", "LRG_270:g.85388C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000719" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000354181.8:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000346112.3:p.Gln219Ter", "hgvsWellDefined": "ENSP00000346112.3:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748536", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354181.8:c.655C>T" }, "RefSeq": { "hgvs": "NM_001365088.1:c.655C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346112.3:p.Gln219Ter" }, "RefSeq": { "hgvs": "NP_001352017.1:p.Gln219Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000675289.1:n.1437C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775128" }, { "coordinates": [ { "allele": "T", "end": 1437, "referenceAllele": "C", "start": 1436 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000676379.1:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000502539.1:p.Gln219Ter", "hgvsWellDefined": "ENSP00000502539.1:p.Gln219_Leu1142delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnCysSerValThrMetGluIleValPheGlyLysLysLeuGlnAlaGlyCysArgGlySerHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776069" }, { "coordinates": [ { "allele": "T", "end": 603, "referenceAllele": "C", "start": 602 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000290209.9:c.502C>T" ], "proteinEffect": { "hgvs": "ENSP00000290209.5:p.Gln168Ter", "hgvsWellDefined": "ENSP00000290209.5:p.Gln168_Ser1099delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253627" }, { "coordinates": [ { "allele": "T", "end": 1148, "referenceAllele": "C", "start": 1147 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000354181.7:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000346112.3:p.Gln219Ter", "hgvsWellDefined": "ENSP00000346112.3:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263033" }, { "coordinates": [ { "allele": "T", "end": 676, "referenceAllele": "C", "start": 675 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000397702.6:c.478C>T" ], "proteinEffect": { "hgvs": "ENSP00000380814.2:p.Gln160Ter", "hgvsWellDefined": "ENSP00000380814.2:p.Gln160_Ser1091delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277938" }, { "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000397707.6:c.610C>T" ], "proteinEffect": { "hgvs": "ENSP00000380819.2:p.Gln204Ter", "hgvsWellDefined": "ENSP00000380819.2:p.Gln204_Ser1135delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277940" }, { "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000458406.6:c.478C>T" ], "proteinEffect": { "hgvs": "ENSP00000387725.2:p.Gln160Ter", "hgvsWellDefined": "ENSP00000387725.2:p.Gln160_Ser1091delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304391" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000558589.5:c.628C>T" ], "proteinEffect": { "hgvs": "ENSP00000452776.1:p.Gln210Ter", "hgvsWellDefined": "ENSP00000452776.1:p.Gln210_Ser1141delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373919" }, { "coordinates": [ { "allele": "T", "end": 758, "referenceAllele": "C", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000558667.5:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000453473.1:p.Gln219Ter", "hgvsWellDefined": "ENSP00000453473.1:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373977" }, { "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000559523.5:c.478C>T" ], "proteinEffect": { "hgvs": "ENSP00000452904.1:p.Gln160Ter", "hgvsWellDefined": "ENSP00000452904.1:p.Gln160_Leu942delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetValArgLysLeuSerLeuArgTyrLysSerMetThrValIleTyrGlnHisIleLeuThrSerAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374651" }, { "coordinates": [ { "allele": "T", "end": 1761, "referenceAllele": "C", "start": 1760 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000559664.5:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000453702.1:p.Gln219Ter", "hgvsWellDefined": "ENSP00000453702.1:p.Gln219_Tyr906delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374763" }, { "coordinates": [ { "allele": "T", "end": 362, "endIntronDirection": "+", "endIntronOffset": 1136, "referenceAllele": "C", "start": 362, "startIntronDirection": "+", "startIntronOffset": 1135 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560164.5:c.126+1136C>T" ], "proteinEffect": { "hgvs": "ENSP00000452705.1:n.126+1136C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS375147" }, { "coordinates": [ { "allele": "T", "end": 407, "referenceAllele": "C", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560332.1:c.238C>T" ], "proteinEffect": { "hgvs": "ENSP00000454037.1:p.Gln80Ter", "hgvsWellDefined": "ENSP00000454037.1:p.Gln80_Val107del" }, "referenceSequence": "http://reg.genome.network/refseq/RS375273" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560611.5:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000454168.1:p.Gln219Ter", "hgvsWellDefined": "ENSP00000454168.1:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375479" }, { "coordinates": [ { "allele": "T", "end": 2032, "referenceAllele": "C", "start": 2031 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000561080.5:c.655C>T" ], "proteinEffect": { "hgvs": "ENSP00000454069.1:p.Gln219Ter", "hgvsWellDefined": "ENSP00000454069.1:p.Gln219_Tyr906delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375838" }, { "@id": "http://reg.genome.network/allele/PA2825407710", "coordinates": [ { "allele": "T", "end": 1005, "referenceAllele": "C", "start": 1004 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042494.1:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001035959.1:p.Gln160Ter", "hgvsWellDefined": "NP_001035959.1:p.Gln160_Ser1091delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009723" }, { "@id": "http://reg.genome.network/allele/PA2825408437", "coordinates": [ { "allele": "T", "end": 680, "referenceAllele": "C", "start": 679 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042495.1:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001035960.1:p.Gln160Ter", "hgvsWellDefined": "NP_001035960.1:p.Gln160_Ser1091delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009724" }, { "@id": "http://reg.genome.network/allele/PA2825409206", "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042496.1:c.628C>T" ], "proteinEffect": { "hgvs": "NP_001035961.1:p.Gln210Ter", "hgvsWellDefined": "NP_001035961.1:p.Gln210_Ser1141delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009725" }, { "@id": "http://reg.genome.network/allele/PA2825409975", "coordinates": [ { "allele": "T", "end": 774, "referenceAllele": "C", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042497.1:c.610C>T" ], "proteinEffect": { "hgvs": "NP_001035962.1:p.Gln204Ter", "hgvsWellDefined": "NP_001035962.1:p.Gln204_Ser1135delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009726" }, { "@id": "http://reg.genome.network/allele/PA2829583145", "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_005135.2:c.502C>T", "LRG_270t1:c.502C>T" ], "proteinEffect": { "hgvs": "NP_005126.1:p.Gln168Ter", "hgvsWellDefined": "NP_005126.1:p.Gln168_Ser1099delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030257" }, { "@id": "http://reg.genome.network/allele/PA645415114", "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "C", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.1:c.655C>T", "LRG_270t2:c.655C>T" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Gln219Ter", "hgvsWellDefined": "NP_598408.1:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040581" }, { "coordinates": [ { "allele": "T", "end": 549, "endIntronDirection": "+", "endIntronOffset": 1136, "referenceAllele": "C", "start": 549, "startIntronDirection": "+", "startIntronOffset": 1135 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.2:c.543+1136C>T" ], "proteinEffect": { "hgvs": "XP_006720856.1:n.543+1136C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS073812" }, { "coordinates": [ { "allele": "T", "end": 1135, "referenceAllele": "C", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522267.1:c.655C>T" ], "proteinEffect": { "hgvs": "XP_011520569.1:p.Gln219Ter", "hgvsWellDefined": "XP_011520569.1:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089422" }, { "coordinates": [ { "allele": "T", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522268.1:c.655C>T" ], "proteinEffect": { "hgvs": "XP_011520570.1:p.Gln219Ter", "hgvsWellDefined": "XP_011520570.1:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089423" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.1:c.655C>T" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Gln219Ter", "hgvsWellDefined": "XP_011520571.1:p.Gln219_His680delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089424" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_429476.2:n.661C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118385" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.1:n.661C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128014" }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931961.1:n.661C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128015" }, { "@id": "http://reg.genome.network/allele/PA2828165294", "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001365088.1:c.655C>T" ], "proteinEffect": { "hgvs": "NP_001352017.1:p.Gln219Ter", "hgvsWellDefined": "NP_001352017.1:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354181.8:c.655C>T" }, "RefSeq": { "hgvs": "NM_001365088.1:c.655C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346112.3:p.Gln219Ter" }, "RefSeq": { "hgvs": "NP_001352017.1:p.Gln219Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1790, "endIntronDirection": "+", "endIntronOffset": 1136, "referenceAllele": "C", "start": 1790, "startIntronDirection": "+", "startIntronOffset": 1135 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.4:c.543+1136C>T" ], "proteinEffect": { "hgvs": "XP_006720856.1:n.543+1136C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS540170" }, { "coordinates": [ { "allele": "T", "end": 1906, "referenceAllele": "C", "start": 1905 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.3:c.655C>T" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Gln219Ter", "hgvsWellDefined": "XP_011520571.1:p.Gln219_His680delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546547" }, { "coordinates": [ { "allele": "T", "end": 1905, "referenceAllele": "C", "start": 1904 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.3:n.1905C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610074" }, { "@id": "http://reg.genome.network/allele/PA2825407710", "coordinates": [ { "allele": "T", "end": 1026, "referenceAllele": "C", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042494.2:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001035959.1:p.Gln160Ter", "hgvsWellDefined": "NP_001035959.1:p.Gln160_Ser1091delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676038" }, { "@id": "http://reg.genome.network/allele/PA2825408437", "coordinates": [ { "allele": "T", "end": 673, "referenceAllele": "C", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042495.2:c.478C>T" ], "proteinEffect": { "hgvs": "NP_001035960.1:p.Gln160Ter", "hgvsWellDefined": "NP_001035960.1:p.Gln160_Ser1091delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676039" }, { "@id": "http://reg.genome.network/allele/PA2825409206", "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042496.2:c.628C>T" ], "proteinEffect": { "hgvs": "NP_001035961.1:p.Gln210Ter", "hgvsWellDefined": "NP_001035961.1:p.Gln210_Ser1141delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676040" }, { "@id": "http://reg.genome.network/allele/PA2825409975", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042497.2:c.610C>T" ], "proteinEffect": { "hgvs": "NP_001035962.1:p.Gln204Ter", "hgvsWellDefined": "NP_001035962.1:p.Gln204_Ser1135delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676041" }, { "@id": "http://reg.genome.network/allele/PA645415114", "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "C", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.2:c.655C>T" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Gln219Ter", "hgvsWellDefined": "NP_598408.1:p.Gln219_Ser1150delinsAlaPheAlaIleValLeuIleCysCysCysCysThrMetLeuThrAlaIleSerMetSerAlaIleAlaThrAsnGlyValValProAlaGlyGlySerTyrPheMetIleSerArgAlaLeuGlyProGluPheGlyGlyAlaValGlyLeuCysPheTyrLeuGlyThrThrPheAlaAlaAlaMetTyrIleLeuGlyAlaIleGluIlePheLeuValTyrIleValProArgAlaAlaIlePheHisSerAspAspAlaLeuLysGluSerAlaAlaMetLeuAsnAsnMetArgValTyrGlyThrAlaPheLeuValLeuMetValLeuValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729120" } ], "type": "nucleotide" }