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"NP_001369561.1:p.Trp211_His466delinsPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722476" }, { "coordinates": [ { "allele": "A", "end": 825, "referenceAllele": "G", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382633.1:c.719G>A" ], "proteinEffect": { "hgvs": "NP_001369562.1:p.Trp240Ter", "hgvsWellDefined": "NP_001369562.1:p.Trp240_Lys533delinsPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAlaGlyValGlnTrpArgAsnLeuSerSerProGlnProLeuProProGlyPheArgArgPheSerCysLeuSerLeuProAsnSerTrpAspTyrArgThrLeuLeuGluAsnGlyLysProCysSerIleLeuLeuLeuLeuLeuMetPheLeuValProPheSerLeuHisTyrSerProLysValLysTyrLysThrGlyLeuSerMetIleThrMetAspThrAspThrGluGlyThrAsnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722477" }, { "coordinates": [ { "allele": "A", "end": 825, "referenceAllele": "G", "start": 824 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382634.1:c.719G>A" ], "proteinEffect": { "hgvs": "NP_001369563.1:p.Trp240Ter", "hgvsWellDefined": "NP_001369563.1:p.Trp240_His442delinsPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722478" }, { "coordinates": [ { "allele": "A", "end": 822, "referenceAllele": "G", "start": 821 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382635.1:c.716G>A" ], "proteinEffect": { "hgvs": "NP_001369564.1:p.Trp239Ter", "hgvsWellDefined": "NP_001369564.1:p.Trp239_His494delinsPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722479" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "G", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN010933", "geneNCBI_id": 26503, "geneSymbol": "SLC17A5", "hgvs": [ "NM_001382636.1:c.401G>A" ], "proteinEffect": { "hgvs": "NP_001369565.1:p.Trp134Ter", "hgvsWellDefined": "NP_001369565.1:p.Trp134_His389delinsPheLeuLeuTrpIleTrpLeuValSerAspThrProGlnLysHisLysArgIleSerHisTyrGluLysGluTyrIleLeuSerSerLeuArgAsnGlnLeuSerSerGlnLysSerValProTrpValProIleLeuLysSerLeuProLeuTrpAlaIleValValAlaHisPheSerTyrAsnTrpThrPheTyrThrLeuLeuThrLeuLeuProThrTyrMetLysGluIleLeuArgPheAsnValGlnGluAsnGlyPheLeuSerSerLeuProTyrLeuGlySerTrpLeuCysMetIleLeuSerGlyGlnAlaAlaAspAsnLeuArgAlaLysTrpAsnPheSerThrLeuCysValArgArgIlePheSerLeuIleGlyMetIleGlyProAlaValPheLeuValAlaAlaGlyPheIleGlyCysAspTyrSerLeuAlaValAlaPheLeuThrIleSerThrThrLeuGlyGlyPheCysSerSerGlyPheSerIleAsnHisLeuAspIleAlaProSerTyrAlaGlyIleLeuLeuGlyIleThrAsnThrPheAlaThrIleProGlyMetValGlyProValIleAlaLysSerLeuThrProAspAsnThrValGlyGluTrpGlnThrValPheTyrIleAlaAlaAlaIleAsnValPheGlyAlaIlePhePheThrLeuPheAlaLysGlyGluValGlnAsnTrpAlaLeuAsnAspHisHisGlyHisArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS722480" } ], "type": "nucleotide" }