{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA391609198", "communityStandardTitle": [ "NM_001365088.1(SLC12A6):c.992T>A (p.Leu331Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1781810[alleleid]", "alleleId": 1781810, "preferredName": "NM_001365088.1(SLC12A6):c.992T>A (p.Leu331Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1724283", "RCV": [ "RCV002309551" ], "variationId": 1724283 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34546675A>T?assembly=hg19", "id": "chr15:g.34546675A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.34254474A>T?assembly=hg38", "id": "chr15:g.34254474A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2509816956", "rs": 2509816956 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 34254474, "referenceAllele": "A", "start": 34254473 } ], "hgvs": [ "NC_000015.10:g.34254474A>T", "CM000677.2:g.34254474A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 34546675, "referenceAllele": "A", "start": 34546674 } ], "hgvs": [ "NC_000015.9:g.34546675A>T", "CM000677.1:g.34546675A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "T", "end": 32333967, "referenceAllele": "A", "start": 32333966 } ], "hgvs": [ "NC_000015.8:g.32333967A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 88591, "referenceAllele": "T", "start": 88590 } ], "hgvs": [ "NG_007951.1:g.88591T>A", "LRG_270:g.88591T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000719" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1514, "referenceAllele": "T", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000354181.8:c.992T>A" ], "proteinEffect": { "hgvs": "ENSP00000346112.3:p.Leu331Ter", "hgvsWellDefined": "ENSP00000346112.3:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748536", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354181.8:c.992T>A" }, "RefSeq": { "hgvs": "NM_001365088.1:c.992T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346112.3:p.Leu331Ter" }, "RefSeq": { "hgvs": "NP_001352017.1:p.Leu331Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1774, "referenceAllele": "T", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000675289.1:n.1774T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS775128" }, { "coordinates": [ { "allele": "A", "end": 1774, "referenceAllele": "T", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000676379.1:c.992T>A" ], "proteinEffect": { "hgvs": "ENSP00000502539.1:p.Leu331Ter", "hgvsWellDefined": "ENSP00000502539.1:p.Leu331_Leu1142delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnCysSerValThrMetGluIleValPheGlyLysLysLeuGlnAlaGlyCysArgGlySerHisLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776069" }, { "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "T", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000290209.9:c.839T>A" ], "proteinEffect": { "hgvs": "ENSP00000290209.5:p.Leu280Ter", "hgvsWellDefined": "ENSP00000290209.5:p.Leu280_Ser1099delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253627" }, { "coordinates": [ { "allele": "A", "end": 1485, "referenceAllele": "T", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000354181.7:c.992T>A" ], "proteinEffect": { "hgvs": "ENSP00000346112.3:p.Leu331Ter", "hgvsWellDefined": "ENSP00000346112.3:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263033" }, { "coordinates": [ { "allele": "A", "end": 1013, "referenceAllele": "T", "start": 1012 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000397702.6:c.815T>A" ], "proteinEffect": { "hgvs": "ENSP00000380814.2:p.Leu272Ter", "hgvsWellDefined": "ENSP00000380814.2:p.Leu272_Ser1091delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277938" }, { "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000397707.6:c.947T>A" ], "proteinEffect": { "hgvs": "ENSP00000380819.2:p.Leu316Ter", "hgvsWellDefined": "ENSP00000380819.2:p.Leu316_Ser1135delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277940" }, { "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "T", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000458406.6:c.815T>A" ], "proteinEffect": { "hgvs": "ENSP00000387725.2:p.Leu272Ter", "hgvsWellDefined": "ENSP00000387725.2:p.Leu272_Ser1091delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS304391" }, { "coordinates": [ { "allele": "A", "end": 1405, "referenceAllele": "T", "start": 1404 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000558589.5:c.965T>A" ], "proteinEffect": { "hgvs": "ENSP00000452776.1:p.Leu322Ter", "hgvsWellDefined": "ENSP00000452776.1:p.Leu322_Ser1141delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373919" }, { "coordinates": [ { "allele": "A", "end": 1095, "referenceAllele": "T", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000558667.5:c.992T>A" ], "proteinEffect": { "hgvs": "ENSP00000453473.1:p.Leu331Ter", "hgvsWellDefined": "ENSP00000453473.1:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373977" }, { "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "T", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000559523.5:c.815T>A" ], "proteinEffect": { "hgvs": "ENSP00000452904.1:p.Leu272Ter", "hgvsWellDefined": "ENSP00000452904.1:p.Leu272_Leu942delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetValArgLysLeuSerLeuArgTyrLysSerMetThrValIleTyrGlnHisIleLeuThrSerAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374651" }, { "coordinates": [ { "allele": "A", "end": 2098, "referenceAllele": "T", "start": 2097 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000559664.5:c.992T>A" ], "proteinEffect": { "hgvs": "ENSP00000453702.1:p.Leu331Ter", "hgvsWellDefined": "ENSP00000453702.1:p.Leu331_Tyr906delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS374763" }, { "coordinates": [ { "allele": "A", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560164.5:c.428T>A" ], "proteinEffect": { "hgvs": "ENSP00000452705.1:p.Leu143Ter", "hgvsWellDefined": "ENSP00000452705.1:p.Leu143_Ser962delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375147" }, { "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "T", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000560611.5:c.992T>A" ], "proteinEffect": { "hgvs": "ENSP00000454168.1:p.Leu331Ter", "hgvsWellDefined": "ENSP00000454168.1:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375479" }, { "coordinates": [ { "allele": "A", "end": 2369, "referenceAllele": "T", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "ENST00000561080.5:c.992T>A" ], "proteinEffect": { "hgvs": "ENSP00000454069.1:p.Leu331Ter", "hgvsWellDefined": "ENSP00000454069.1:p.Leu331_Tyr906delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleAlaMetTrpSerAsnPheLeuArgAlaThrLeuMetCysGlyGlyLeuCysMetMetGlyGlyCysLeuCysTyrTyrHisSerTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS375838" }, { "@id": "http://reg.genome.network/allele/PA2825407804", "coordinates": [ { "allele": "A", "end": 1342, "referenceAllele": "T", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042494.1:c.815T>A" ], "proteinEffect": { "hgvs": "NP_001035959.1:p.Leu272Ter", "hgvsWellDefined": "NP_001035959.1:p.Leu272_Ser1091delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009723" }, { "@id": "http://reg.genome.network/allele/PA2825408531", "coordinates": [ { "allele": "A", "end": 1017, "referenceAllele": "T", "start": 1016 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042495.1:c.815T>A" ], "proteinEffect": { "hgvs": "NP_001035960.1:p.Leu272Ter", "hgvsWellDefined": "NP_001035960.1:p.Leu272_Ser1091delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009724" }, { "@id": "http://reg.genome.network/allele/PA2825409299", "coordinates": [ { "allele": "A", "end": 1408, "referenceAllele": "T", "start": 1407 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042496.1:c.965T>A" ], "proteinEffect": { "hgvs": "NP_001035961.1:p.Leu322Ter", "hgvsWellDefined": "NP_001035961.1:p.Leu322_Ser1141delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009725" }, { "@id": "http://reg.genome.network/allele/PA2825410069", "coordinates": [ { "allele": "A", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042497.1:c.947T>A" ], "proteinEffect": { "hgvs": "NP_001035962.1:p.Leu316Ter", "hgvsWellDefined": "NP_001035962.1:p.Leu316_Ser1135delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009726" }, { "@id": "http://reg.genome.network/allele/PA2829583296", "coordinates": [ { "allele": "A", "end": 981, "referenceAllele": "T", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_005135.2:c.839T>A", "LRG_270t1:c.839T>A" ], "proteinEffect": { "hgvs": "NP_005126.1:p.Leu280Ter", "hgvsWellDefined": "NP_005126.1:p.Leu280_Ser1099delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS030257" }, { "@id": "http://reg.genome.network/allele/PA2580488154", "coordinates": [ { "allele": "A", "end": 1156, "referenceAllele": "T", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.1:c.992T>A", "LRG_270t2:c.992T>A" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Leu331Ter", "hgvsWellDefined": "NP_598408.1:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040581" }, { "coordinates": [ { "allele": "A", "end": 851, "referenceAllele": "T", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.2:c.845T>A" ], "proteinEffect": { "hgvs": "XP_006720856.1:p.Leu282Ter", "hgvsWellDefined": "XP_006720856.1:p.Leu282_Ser1101delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073812" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "T", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522267.1:c.992T>A" ], "proteinEffect": { "hgvs": "XP_011520569.1:p.Leu331Ter", "hgvsWellDefined": "XP_011520569.1:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089422" }, { "coordinates": [ { "allele": "A", "end": 1161, "referenceAllele": "T", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522268.1:c.992T>A" ], "proteinEffect": { "hgvs": "XP_011520570.1:p.Leu331Ter", "hgvsWellDefined": "XP_011520570.1:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089423" }, { "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.1:c.992T>A" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Leu331Ter", "hgvsWellDefined": "XP_011520571.1:p.Leu331_His680delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089424" }, { "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_429476.2:n.998T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118385" }, { "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.1:n.998T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128014" }, { "coordinates": [ { "allele": "A", "end": 998, "referenceAllele": "T", "start": 997 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931961.1:n.998T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS128015" }, { "@id": "http://reg.genome.network/allele/PA2828165538", "coordinates": [ { "allele": "A", "end": 1514, "referenceAllele": "T", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001365088.1:c.992T>A" ], "proteinEffect": { "hgvs": "NP_001352017.1:p.Leu331Ter", "hgvsWellDefined": "NP_001352017.1:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS524027", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354181.8:c.992T>A" }, "RefSeq": { "hgvs": "NM_001365088.1:c.992T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346112.3:p.Leu331Ter" }, "RefSeq": { "hgvs": "NP_001352017.1:p.Leu331Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2092, "referenceAllele": "T", "start": 2091 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_006720793.4:c.845T>A" ], "proteinEffect": { "hgvs": "XP_006720856.1:p.Leu282Ter", "hgvsWellDefined": "XP_006720856.1:p.Leu282_Ser1101delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540170" }, { "coordinates": [ { "allele": "A", "end": 2243, "referenceAllele": "T", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XM_011522269.3:c.992T>A" ], "proteinEffect": { "hgvs": "XP_011520571.1:p.Leu331Ter", "hgvsWellDefined": "XP_011520571.1:p.Leu331_His680delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546547" }, { "coordinates": [ { "allele": "A", "end": 2242, "referenceAllele": "T", "start": 2241 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "XR_931960.3:n.2242T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610074" }, { "@id": "http://reg.genome.network/allele/PA2825407804", "coordinates": [ { "allele": "A", "end": 1363, "referenceAllele": "T", "start": 1362 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042494.2:c.815T>A" ], "proteinEffect": { "hgvs": "NP_001035959.1:p.Leu272Ter", "hgvsWellDefined": "NP_001035959.1:p.Leu272_Ser1091delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676038" }, { "@id": "http://reg.genome.network/allele/PA2825408531", "coordinates": [ { "allele": "A", "end": 1010, "referenceAllele": "T", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042495.2:c.815T>A" ], "proteinEffect": { "hgvs": "NP_001035960.1:p.Leu272Ter", "hgvsWellDefined": "NP_001035960.1:p.Leu272_Ser1091delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676039" }, { "@id": "http://reg.genome.network/allele/PA2825409299", "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "T", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042496.2:c.965T>A" ], "proteinEffect": { "hgvs": "NP_001035961.1:p.Leu322Ter", "hgvsWellDefined": "NP_001035961.1:p.Leu322_Ser1141delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676040" }, { "@id": "http://reg.genome.network/allele/PA2825410069", "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "T", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_001042497.2:c.947T>A" ], "proteinEffect": { "hgvs": "NP_001035962.1:p.Leu316Ter", "hgvsWellDefined": "NP_001035962.1:p.Leu316_Ser1135delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676041" }, { "@id": "http://reg.genome.network/allele/PA2580488154", "coordinates": [ { "allele": "A", "end": 1328, "referenceAllele": "T", "start": 1327 } ], "gene": "http://reg.genome.network/gene/GN010914", "geneNCBI_id": 9990, "geneSymbol": "SLC12A6", "hgvs": [ "NM_133647.2:c.992T>A" ], "proteinEffect": { "hgvs": "NP_598408.1:p.Leu331Ter", "hgvsWellDefined": "NP_598408.1:p.Leu331_Ser1150delinsValValPheIleGlyValArgTyrValAsnLysPheAlaSerLeuPheLeuAlaCysValIleValSerIleLeuAlaIleTyrAlaGlyAlaIleLysSerSerPheAlaProProHisPheProValCysMetLeuGlyAsnArgThrLeuSerSerArgHisIleAspValCysSerLysThrLysGluIleAsnAsnMetThrValProSerLysLeuTrpGlyPhePheCysAsnSerSerGlnPhePheAsnAlaThrCysAspGluTyrPheValHisAsnAsnValThrSerIleGlnGlyIleProGlyLeuAlaSerGlyIleIleThrGluAsnLeuTrpSerAsnTyrLeuProLysGlyGluIleIleGluLysProSerAlaLysSerSerAspValLeuGlySerLeuAsnHisGluTyrValLeuValAspIleThrThrSerPheThrLeuLeuValGlyIlePhePheProSerValThrGlyIleMetAlaGlySerAsnArgSerGlyAspLeuLysAspAlaGlnLysSerIleProIleGlyThrIleLeuAlaIleLeuThrThrSerPheValTyrLeuSerAsnValValLeuPheGlyAlaCysIleGluGlyValValLeuArgAspLysPheGlyAspAlaValLysGlyAsnLeuValValGlyThrLeuSerTrpProSerProTrpValIleValIleGlySerPhePheSerThrCysGlyAlaGlyLeuGlnSerLeuThrGlyAlaProArgLeuLeuGlnAlaIleAlaLysAspAsnIleIleProPheLeuArgValPheGlyHisSerLysAlaAsnGlyGluProThrTrpAlaLeuLeuLeuThrAlaAlaIleAlaGluLeuGlyIleLeuIleAlaSerLeuAspLeuValAlaProIleLeuSerMetPhePheLeuMetCysTyrLeuPheValAsnLeuAlaCysAlaLeuGlnThrLeuLeuArgThrProAsnTrpArgProArgPheArgTyrTyrHisTrpAlaLeuSerPheMetGlyMetSerIleCysLeuAlaLeuMetPheIleSerSerTrpTyrTyrAlaIleValAlaMetValIleAlaGlyMetIleTyrLysTyrIleGluTyrGlnGlyAlaGluLysGluTrpGlyAspGlyIleArgGlyLeuSerLeuSerAlaAlaArgPheAlaLeuLeuArgLeuGluGluGlyProProHisThrLysAsnTrpArgProGlnLeuLeuValLeuLeuLysLeuAspGluAspLeuHisValLysHisProArgLeuLeuThrPheAlaSerGlnLeuLysAlaGlyLysGlyLeuThrIleValGlySerValIleValGlyAsnPheLeuGluAsnTyrGlyGluAlaLeuAlaAlaGluGlnThrIleLysHisLeuMetGluAlaGluLysValLysGlyPheCysGlnLeuValValAlaAlaLysLeuArgGluGlyIleSerHisLeuIleGlnSerCysGlyLeuGlyGlyMetLysHisAsnThrValValMetGlyTrpProAsnGlyTrpArgGlnSerGluAspAlaArgAlaTrpLysThrPheIleGlyThrValArgValThrThrAlaAlaHisLeuAlaLeuLeuValAlaLysAsnIleSerPhePheProSerAsnValGluGlnPheSerGluGlyAsnIleAspValTrpTrpIleValHisAspGlyGlyMetLeuMetLeuLeuProPheLeuLeuLysGlnHisLysValTrpArgLysCysSerIleArgIlePheThrValAlaGlnLeuGluAspAsnSerIleGlnMetLysLysAspLeuAlaThrPheLeuTyrHisLeuArgIleGluAlaGluValGluValValGluMetHisAspSerAspIleSerAlaTyrThrTyrGluArgThrLeuMetMetGluGlnArgSerGlnMetLeuArgHisMetArgLeuSerLysThrGluArgAspArgGluAlaGlnLeuValLysAspArgAsnSerMetLeuArgLeuThrSerIleGlySerAspGluAspGluGluThrGluThrTyrGlnGluLysValHisMetThrTrpThrLysAspLysTyrMetAlaSerArgGlyGlnLysAlaLysSerMetGluGlyPheGlnAspLeuLeuAsnMetArgProAspGlnSerAsnValArgArgMetHisThrAlaValLysLeuAsnGluValIleValAsnLysSerHisGluAlaLysLeuValLeuLeuAsnMetProGlyProProArgAsnProGluGlyAspGluAsnTyrMetGluPheLeuGluValLeuThrGluGlyLeuGluArgValLeuLeuValArgGlyGlyGlySerGluValIleThrIleTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729120" } ], "type": "nucleotide" }