{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA392306848", "communityStandardTitle": [ "NM_000338.3(SLC12A1):c.755T>A (p.Leu252Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48521416T>A?assembly=hg19", "id": "chr15:g.48521416T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.48229219T>A?assembly=hg38", "id": "chr15:g.48229219T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/534271146", "rs": 534271146 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-48229219-T-A?dataset=gnomad_r4", "id": "15-48229219-T-A", "variant": "15:48229219 T / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 48229219, "referenceAllele": "T", "start": 48229218 } ], "hgvs": [ "NC_000015.10:g.48229219T>A", "CM000677.2:g.48229219T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 48521416, "referenceAllele": "T", "start": 48521415 } ], "hgvs": [ "NC_000015.9:g.48521416T>A", "CM000677.1:g.48521416T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 46308708, "referenceAllele": "T", "start": 46308707 } ], "hgvs": [ "NC_000015.8:g.46308708T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "A", "end": 27919, "referenceAllele": "T", "start": 27918 } ], "hgvs": [ "NG_021301.1:g.27919T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003546" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000686073.1:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000508901.1:p.Leu252Ter", "hgvsWellDefined": "ENSP00000508901.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830385" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.8:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Leu252Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752470", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.755T>A" }, "RefSeq": { "hgvs": "NM_000338.3:c.755T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Leu252Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Leu252Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1285, "referenceAllele": "T", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000646012.1:c.893T>A" ], "proteinEffect": { "hgvs": "ENSP00000495813.1:p.Leu298Ter", "hgvsWellDefined": "ENSP00000495813.1:p.Leu298_Ser1145delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768651" }, { "coordinates": [ { "allele": "A", "end": 1264, "referenceAllele": "T", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647232.1:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000493875.1:p.Leu252Ter", "hgvsWellDefined": "ENSP00000493875.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769300" }, { "coordinates": [ { "allele": "A", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000647546.1:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000495332.1:p.Leu252Ter", "hgvsWellDefined": "ENSP00000495332.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769476" }, { "coordinates": [ { "allele": "A", "end": 941, "referenceAllele": "T", "start": 940 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000330289.10:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000331550.6:p.Leu252Ter", "hgvsWellDefined": "ENSP00000331550.6:p.Leu252_Ile430delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAlaLeuArgLysGlnGlyAlaSerProLeuProGlnGlyAlaGlnSerArgArgArgArgGlnThrSerLeuIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS259214" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "T", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000380993.7:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000370381.3:p.Leu252Ter", "hgvsWellDefined": "ENSP00000370381.3:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273173" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000396577.7:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000379822.3:p.Leu252Ter", "hgvsWellDefined": "ENSP00000379822.3:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277336" }, { "coordinates": [ { "allele": "A", "end": 4878, "referenceAllele": "T", "start": 4877 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558252.5:n.4878T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS373663" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "T", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000558405.5:c.755T>A" ], "proteinEffect": { "hgvs": "ENSP00000453409.1:p.Leu252Ter", "hgvsWellDefined": "ENSP00000453409.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373773" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "T", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000559641.5:c.194T>A" ], "proteinEffect": { "hgvs": "ENSP00000453230.1:p.Leu65Ter", "hgvsWellDefined": "ENSP00000453230.1:p.Leu65Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS374743" }, { "coordinates": [ { "allele": "A", "end": 128, "referenceAllele": "T", "start": 127 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000559723.2:n.128T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS374809" }, { "coordinates": [ { "allele": "A", "end": 4894, "referenceAllele": "T", "start": 4893 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000560692.5:n.4894T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS375541" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "T", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "ENST00000561127.5:c.194T>A" ], "proteinEffect": { "hgvs": "ENSP00000453602.2:p.Leu65Ter", "hgvsWellDefined": "ENSP00000453602.2:p.Leu65Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS375873" }, { "@id": "http://reg.genome.network/allele/PA3081995550", "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "T", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.2:c.755T>A" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Leu252Ter", "hgvsWellDefined": "NP_000329.2:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006401" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "T", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.1:c.755T>A" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Leu252Ter", "hgvsWellDefined": "NP_001171761.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016002" }, { "coordinates": [ { "allele": "A", "end": 1067, "referenceAllele": "T", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254605.1:c.851T>A" ], "proteinEffect": { "hgvs": "XP_005254662.1:p.Leu284Ter", "hgvsWellDefined": "XP_005254662.1:p.Leu284_Ser1131delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060682" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "T", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.1:c.755T>A" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Leu252Ter", "hgvsWellDefined": "XP_005254663.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060683" }, { "coordinates": [ { "allele": "A", "end": 1067, "referenceAllele": "T", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_006720656.1:c.851T>A" ], "proteinEffect": { "hgvs": "XP_006720719.1:p.Leu284Ter", "hgvsWellDefined": "XP_006720719.1:p.Leu284_Pro1097delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuLeuArgGlyCysGlnSerGlnCysTyrProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073748" }, { "coordinates": [ { "allele": "A", "end": 1067, "referenceAllele": "T", "start": 1066 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XR_931896.1:n.1067T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127969" }, { "coordinates": [ { "allele": "T", "end": 229, "endIntronDirection": "+", "endIntronOffset": 737, "referenceAllele": "A", "start": 229, "startIntronDirection": "+", "startIntronOffset": 736 } ], "hgvs": [ "XR_932203.1:n.229+737A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128231" }, { "coordinates": [ { "allele": "T", "end": 222, "endIntronDirection": "+", "endIntronOffset": 737, "referenceAllele": "A", "start": 222, "startIntronDirection": "+", "startIntronOffset": 736 } ], "hgvs": [ "XR_932204.1:n.222+737A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128232" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "XM_005254606.2:c.755T>A" ], "proteinEffect": { "hgvs": "XP_005254663.1:p.Leu252Ter", "hgvsWellDefined": "XP_005254663.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534145" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 737, "referenceAllele": "A", "start": 230, "startIntronDirection": "+", "startIntronOffset": 736 } ], "hgvs": [ "XR_001751524.2:n.230+737A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598402" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 737, "referenceAllele": "A", "start": 230, "startIntronDirection": "+", "startIntronOffset": 736 } ], "hgvs": [ "XR_001751525.1:n.230+737A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS598403" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 737, "referenceAllele": "A", "start": 230, "startIntronDirection": "+", "startIntronOffset": 736 } ], "hgvs": [ "XR_002957762.1:n.230+737A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603891" }, { "coordinates": [ { "allele": "T", "end": 224, "endIntronDirection": "+", "endIntronOffset": 737, "referenceAllele": "A", "start": 224, "startIntronDirection": "+", "startIntronOffset": 736 } ], "hgvs": [ "XR_932204.3:n.224+737A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610144" }, { "@id": "http://reg.genome.network/allele/PA3081995550", "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_000338.3:c.755T>A" ], "proteinEffect": { "hgvs": "NP_000329.2:p.Leu252Ter", "hgvsWellDefined": "NP_000329.2:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674796", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000380993.8:c.755T>A" }, "RefSeq": { "hgvs": "NM_000338.3:c.755T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000370381.3:p.Leu252Ter" }, "RefSeq": { "hgvs": "NP_000329.2:p.Leu252Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001184832.2:c.755T>A" ], "proteinEffect": { "hgvs": "NP_001171761.1:p.Leu252Ter", "hgvsWellDefined": "NP_001171761.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679016" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "T", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN010910", "geneNCBI_id": 6557, "geneSymbol": "SLC12A1", "hgvs": [ "NM_001384136.1:c.755T>A" ], "proteinEffect": { "hgvs": "NP_001371065.1:p.Leu252Ter", "hgvsWellDefined": "NP_001371065.1:p.Leu252_Ser1099delinsGlyProGluPheGlyGlySerIleGlyLeuIlePheAlaPheAlaAsnAlaValAlaValAlaMetTyrValValGlyPheAlaGluThrValValAspLeuLeuLysGluSerAspSerMetMetValAspProThrAsnAspIleArgIleIleGlySerIleThrValValIleLeuLeuGlyIleSerValAlaGlyMetGluTrpGluAlaLysAlaGlnValIleLeuLeuValIleLeuLeuIleAlaIleAlaAsnPhePheIleGlyThrValIleProSerAsnAsnGluLysLysSerArgGlyPhePheAsnTyrGlnAlaSerIlePheAlaGluAsnPheGlyProArgPheThrLysGlyGluGlyPhePheSerValPheAlaIlePhePheProAlaAlaThrGlyIleLeuAlaGlyAlaAsnIleSerGlyAspLeuGluAspProGlnAspAlaIleProArgGlyThrMetLeuAlaIlePheIleThrThrValAlaTyrLeuGlyValAlaIleCysValGlyAlaCysValValArgAspAlaThrGlyAsnMetAsnAspThrIleIleSerGlyMetAsnCysAsnGlySerAlaAlaCysGlyLeuGlyTyrAspPheSerArgCysArgHisGluProCysGlnTyrGlyLeuMetAsnAsnPheGlnValMetSerMetValSerGlyPheGlyProLeuIleThrAlaGlyIlePheSerAlaThrLeuSerSerAlaLeuAlaSerLeuValSerAlaProLysValPheGlnAlaLeuCysLysAspAsnIleTyrLysAlaLeuGlnPhePheAlaLysGlyTyrGlyLysAsnAsnGluProLeuArgGlyTyrIleLeuThrPheLeuIleAlaMetAlaPheIleLeuIleAlaGluLeuAsnThrIleAlaProIleIleSerAsnPhePheLeuAlaSerTyrAlaLeuIleAsnPheSerCysPheHisAlaSerTyrAlaLysSerProGlyTrpArgProAlaTyrGlyIleTyrAsnMetTrpValSerLeuPheGlyAlaValLeuCysCysAlaValMetPheValIleAsnTrpTrpAlaAlaValIleThrTyrValIleGluPhePheLeuTyrValTyrValThrCysLysLysProAspValAsnTrpGlySerSerThrGlnAlaLeuSerTyrValSerAlaLeuAspAsnAlaLeuGluLeuThrThrValGluAspHisValLysAsnPheArgProGlnCysIleValLeuThrGlyGlyProMetThrArgProAlaLeuLeuAspIleThrHisAlaPheThrLysAsnSerGlyLeuCysIleCysCysGluValPheValGlyProArgLysLeuCysValLysGluMetAsnSerGlyMetAlaLysLysGlnAlaTrpLeuIleLysAsnLysIleLysAlaPheTyrAlaAlaValAlaAlaAspCysPheArgAspGlyValArgSerLeuLeuGlnAlaSerGlyLeuGlyArgMetLysProAsnThrLeuValIleGlyTyrLysLysAsnTrpArgLysAlaProLeuThrGluIleGluAsnTyrValGlyIleIleHisAspAlaPheAspPheGluIleGlyValValIleValArgIleSerGlnGlyPheAspIleSerGlnValLeuGlnValGlnGluGluLeuGluArgLeuGluGlnGluArgLeuAlaLeuGluAlaThrIleLysAspAsnGluCysGluGluGluSerGlyGlyIleArgGlyLeuPheLysLysAlaGlyLysLeuAsnIleThrLysThrThrProLysLysAspGlySerIleAsnThrSerGlnSerMetHisValGlyGluPheAsnGlnLysLeuValGluAlaSerThrGlnPheLysLysLysGlnGluLysGlyThrIleAspValTrpTrpLeuPheAspAspGlyGlyLeuThrLeuLeuIleProTyrIleLeuThrLeuArgLysLysTrpLysAspCysLysLeuArgIleTyrValGlyGlyLysIleAsnArgIleGluGluGluLysIleValMetAlaSerLeuLeuSerLysPheArgIleLysPheAlaAspIleHisIleIleGlyAspIleAsnIleArgProAsnLysGluSerTrpLysValPheGluGluMetIleGluProTyrArgLeuHisGluSerCysLysAspLeuThrThrAlaGluLysLeuLysArgGluThrProTrpLysIleThrAspAlaGluLeuGluAlaValLysGluLysSerTyrArgGlnValArgLeuAsnGluLeuLeuGlnGluHisSerArgAlaAlaAsnLeuIleValLeuSerLeuProValAlaArgLysGlySerIleSerAspLeuLeuTyrMetAlaTrpLeuGluIleLeuThrLysAsnLeuProProValLeuLeuValArgGlyAsnHisLysAsnValLeuThrPheTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722663" } ], "type": "nucleotide" }