{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008344", "communityStandardTitle": [ "NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58280[alleleid]", "alleleId": 58280, "preferredName": "NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49118", "RCV": [ "RCV000042373", "RCV000054984", "RCV001852871" ], "variationId": 49118 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135787691A>C?assembly=hg19", "id": "chr9:g.135787691A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.132912304A>C?assembly=hg38", "id": "chr9:g.132912304A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203461", "rs": 118203461 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 132912304, "referenceAllele": "A", "start": 132912303 } ], "hgvs": [ "NC_000009.12:g.132912304A>C", "CM000671.2:g.132912304A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 135787691, "referenceAllele": "A", "start": 135787690 } ], "hgvs": [ "NC_000009.11:g.135787691A>C", "CM000671.1:g.135787691A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 134777512, "referenceAllele": "A", "start": 134777511 } ], "hgvs": [ "NC_000009.10:g.134777512A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 37330, "referenceAllele": "T", "start": 37329 } ], "hgvs": [ "NG_012386.1:g.37330T>G", "LRG_486:g.37330T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002390" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1048, "referenceAllele": "T", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.7:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000496126.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000496126.2:p.Tyr297_Ser1163delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914126" }, { "coordinates": [ { "allele": "G", "end": 1200, "referenceAllele": "T", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.4:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000495533.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000495533.2:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914163" }, { "coordinates": [ { "allele": "G", "end": 1108, "referenceAllele": "T", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642261.2:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000494743.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000494743.2:p.Tyr297_Ser738delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914401" }, { "coordinates": [ { "allele": "G", "end": 1108, "referenceAllele": "T", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.2:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000495598.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000495598.2:p.Tyr297_Arg671delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914407" }, { "coordinates": [ { "allele": "G", "end": 997, "referenceAllele": "T", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.2:c.738T>G" ], "proteinEffect": { "hgvs": "ENSP00000496398.2:p.Tyr246Ter", "hgvsWellDefined": "ENSP00000496398.2:p.Tyr246_Ser1035delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914408" }, { "coordinates": [ { "allele": "G", "end": 1087, "referenceAllele": "T", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643625.2:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000495546.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000495546.2:p.Tyr297_Gly696delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914410" }, { "coordinates": [ { "allele": "G", "end": 806, "referenceAllele": "T", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.2:c.528T>G" ], "proteinEffect": { "hgvs": "ENSP00000494916.2:p.Tyr176Ter", "hgvsWellDefined": "ENSP00000494916.2:p.Tyr176_Ser1043delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914411" }, { "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "T", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.2:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000495428.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000495428.2:p.Tyr297_Ser1150delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914412" }, { "coordinates": [ { "allele": "G", "end": 943, "referenceAllele": "T", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.2:c.738T>G" ], "proteinEffect": { "hgvs": "ENSP00000493639.2:p.Tyr246Ter", "hgvsWellDefined": "ENSP00000493639.2:p.Tyr246_Ser1112delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914417" }, { "coordinates": [ { "allele": "G", "end": 1225, "referenceAllele": "T", "start": 1224 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646440.2:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000495830.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000495830.2:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914420" }, { "coordinates": [ { "allele": "G", "end": 1119, "referenceAllele": "T", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.2:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Tyr297_Thr381delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914425" }, { "coordinates": [ { "allele": "G", "end": 1108, "referenceAllele": "T", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.9:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744603", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.891T>G" }, "RefSeq": { "hgvs": "NM_000368.5:c.891T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Tyr297Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Tyr297Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.6:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Tyr297_Ile366delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754067" }, { "coordinates": [ { "allele": "G", "end": 165, "referenceAllele": "T", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000493467.6:n.165T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757737" }, { "coordinates": [ { "allele": "G", "end": 1189, "referenceAllele": "T", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642344.1:c.*632T>G" ], "proteinEffect": { "hgvs": "ENSP00000494847.1:n.*632T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766689" }, { "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "T", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642617.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000493773.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000493773.1:p.Tyr297_Ser1163delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766841" }, { "coordinates": [ { "allele": "G", "end": 1111, "referenceAllele": "T", "start": 1110 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642627.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000496772.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000496772.1:p.Tyr297_Ser1158delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766846" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "T", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642646.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000496292.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000496292.1:p.Tyr297_Thr454delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766858" }, { "coordinates": [ { "allele": "G", "end": 1108, "referenceAllele": "T", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642745.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000493963.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000493963.1:p.Tyr297_Thr454delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766906" }, { "coordinates": [ { "allele": "G", "end": 978, "referenceAllele": "T", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642811.1:c.*661T>G" ], "proteinEffect": { "hgvs": "ENSP00000495554.1:n.*661T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766935" }, { "coordinates": [ { "allele": "G", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642854.1:c.*676T>G" ], "proteinEffect": { "hgvs": "ENSP00000494639.1:n.*676T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766958" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643072.1:c.738T>G" ], "proteinEffect": { "hgvs": "ENSP00000496691.1:p.Tyr246Ter", "hgvsWellDefined": "ENSP00000496691.1:p.Tyr246_Ser1113delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767076" }, { "coordinates": [ { "allele": "G", "end": 997, "referenceAllele": "T", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.1:c.738T>G" ], "proteinEffect": { "hgvs": "ENSP00000496398.1:p.Tyr246Ter", "hgvsWellDefined": "ENSP00000496398.1:p.Tyr246_Lys346del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767241" }, { "coordinates": [ { "allele": "G", "end": 1107, "referenceAllele": "T", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643583.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000494685.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000494685.1:p.Tyr297_Ser1159delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767358" }, { "coordinates": [ { "allele": "G", "end": 806, "referenceAllele": "T", "start": 805 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.1:c.528T>G" ], "proteinEffect": { "hgvs": "ENSP00000494916.1:p.Tyr176Ter", "hgvsWellDefined": "ENSP00000494916.1:p.Tyr176Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767414" }, { "coordinates": [ { "allele": "G", "end": 1105, "referenceAllele": "T", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643875.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000495158.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000495158.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767519" }, { "coordinates": [ { "allele": "G", "end": 1232, "referenceAllele": "T", "start": 1231 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644097.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000494682.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000494682.1:p.Tyr297_Ser1163delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767631" }, { "coordinates": [ { "allele": "G", "end": 1014, "referenceAllele": "T", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644255.1:c.*661T>G" ], "proteinEffect": { "hgvs": "ENSP00000493608.1:n.*661T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767724" }, { "coordinates": [ { "allele": "G", "end": 618, "referenceAllele": "T", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644319.1:n.618T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767758" }, { "coordinates": [ { "allele": "G", "end": 1156, "referenceAllele": "T", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644997.1:c.*548T>G" ], "proteinEffect": { "hgvs": "ENSP00000495654.1:n.*548T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768113" }, { "coordinates": [ { "allele": "G", "end": 943, "referenceAllele": "T", "start": 942 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.1:c.738T>G" ], "proteinEffect": { "hgvs": "ENSP00000493639.1:p.Tyr246Ter", "hgvsWellDefined": "ENSP00000493639.1:p.Tyr246_Pro347del" }, "referenceSequence": "http://reg.genome.network/refseq/RS768186" }, { "coordinates": [ { "allele": "G", "end": 1096, "referenceAllele": "T", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645150.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000494365.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000494365.1:p.Tyr297_Thr454delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768198" }, { "coordinates": [ { "allele": "G", "end": 1094, "referenceAllele": "T", "start": 1093 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645901.1:n.1094T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768597" }, { "coordinates": [ { "allele": "G", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646391.1:c.*661T>G" ], "proteinEffect": { "hgvs": "ENSP00000494104.1:n.*661T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768848" }, { "coordinates": [ { "allele": "G", "end": 1096, "referenceAllele": "T", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646625.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000496263.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000496263.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768978" }, { "coordinates": [ { "allele": "G", "end": 1029, "referenceAllele": "T", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Tyr297_Thr381delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769222" }, { "coordinates": [ { "allele": "G", "end": 1026, "referenceAllele": "T", "start": 1025 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647279.1:c.*130T>G" ], "proteinEffect": { "hgvs": "ENSP00000494502.1:n.*130T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769329" }, { "coordinates": [ { "allele": "G", "end": 1108, "referenceAllele": "T", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647462.1:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000495821.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000495821.1:p.Tyr297_Thr453delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769427" }, { "coordinates": [ { "allele": "G", "end": 1119, "referenceAllele": "T", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647506.1:n.1119T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS769453" }, { "coordinates": [ { "allele": "G", "end": 1113, "referenceAllele": "T", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.7:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246725" }, { "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.5:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Tyr297_Ile366delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247230" }, { "coordinates": [ { "allele": "G", "end": 974, "referenceAllele": "T", "start": 973 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000440111.6:c.891T>G" ], "proteinEffect": { "hgvs": "ENSP00000394524.2:p.Tyr297Ter", "hgvsWellDefined": "ENSP00000394524.2:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247294" }, { "coordinates": [ { "allele": "G", "end": 1087, "referenceAllele": "T", "start": 1086 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000493467.5:n.1087T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS330611" }, { "coordinates": [ { "allele": "G", "end": 821, "referenceAllele": "T", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000545250.5:c.738T>G" ], "proteinEffect": { "hgvs": "ENSP00000444017.1:p.Tyr246Ter", "hgvsWellDefined": "ENSP00000444017.1:p.Tyr246_Ser1113delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247297" }, { "@id": "http://reg.genome.network/allele/PA262418", "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.4:c.891T>G", "LRG_486t1:c.891T>G" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Tyr297Ter", "hgvsWellDefined": "NP_000359.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006430" }, { "@id": "http://reg.genome.network/allele/PA915986842", "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.1:c.891T>G" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Tyr297Ter", "hgvsWellDefined": "NP_001155898.1:p.Tyr297_Ser1163delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014316" }, { "@id": "http://reg.genome.network/allele/PA2825955370", "coordinates": [ { "allele": "G", "end": 972, "referenceAllele": "T", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.1:c.738T>G" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Tyr246Ter", "hgvsWellDefined": "NP_001155899.1:p.Tyr246_Ser1113delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014317" }, { "coordinates": [ { "allele": "G", "end": 1170, "referenceAllele": "T", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_005272211.1:c.891T>G" ], "proteinEffect": { "hgvs": "XP_005272268.1:p.Tyr297Ter", "hgvsWellDefined": "XP_005272268.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067177" }, { "coordinates": [ { "allele": "G", "end": 1105, "referenceAllele": "T", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717271.1:c.891T>G" ], "proteinEffect": { "hgvs": "XP_006717334.1:p.Tyr297Ter", "hgvsWellDefined": "XP_006717334.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072084" }, { "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "T", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717272.2:c.891T>G" ], "proteinEffect": { "hgvs": "XP_006717335.1:p.Tyr297Ter", "hgvsWellDefined": "XP_006717335.1:p.Tyr297_Phe667delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072085" }, { "coordinates": [ { "allele": "G", "end": 1220, "referenceAllele": "T", "start": 1219 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.1:c.891T>G" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Tyr297Ter", "hgvsWellDefined": "XP_011517281.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086153" }, { "@id": "http://reg.genome.network/allele/PA2828059345", "coordinates": [ { "allele": "G", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.1:c.528T>G" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Tyr176Ter", "hgvsWellDefined": "NP_001349106.1:p.Tyr176_Ser1043delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523007" }, { "coordinates": [ { "allele": "G", "end": 1119, "referenceAllele": "T", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.2:c.891T>G" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Tyr297Ter", "hgvsWellDefined": "XP_011517281.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545159" }, { "coordinates": [ { "allele": "G", "end": 1584, "referenceAllele": "T", "start": 1583 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015096.1:c.891T>G" ], "proteinEffect": { "hgvs": "XP_016870585.1:p.Tyr297Ter", "hgvsWellDefined": "XP_016870585.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567917" }, { "coordinates": [ { "allele": "G", "end": 1555, "referenceAllele": "T", "start": 1554 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015097.1:c.891T>G" ], "proteinEffect": { "hgvs": "XP_016870586.1:p.Tyr297Ter", "hgvsWellDefined": "XP_016870586.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567918" }, { "coordinates": [ { "allele": "G", "end": 1170, "referenceAllele": "T", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015098.1:c.891T>G" ], "proteinEffect": { "hgvs": "XP_016870587.1:p.Tyr297Ter", "hgvsWellDefined": "XP_016870587.1:p.Tyr297_Ser1163delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567919" }, { "coordinates": [ { "allele": "G", "end": 1234, "referenceAllele": "T", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015100.1:c.528T>G" ], "proteinEffect": { "hgvs": "XP_016870589.1:p.Tyr176Ter", "hgvsWellDefined": "XP_016870589.1:p.Tyr176_Ser1043delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567920" }, { "coordinates": [ { "allele": "G", "end": 1264, "referenceAllele": "T", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015101.1:c.528T>G" ], "proteinEffect": { "hgvs": "XP_016870590.1:p.Tyr176Ter", "hgvsWellDefined": "XP_016870590.1:p.Tyr176_Ser1042delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567921" }, { "@id": "http://reg.genome.network/allele/PA262418", "coordinates": [ { "allele": "G", "end": 1108, "referenceAllele": "T", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.5:c.891T>G" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Tyr297Ter", "hgvsWellDefined": "NP_000359.1:p.Tyr297_Ser1164delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674813", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.891T>G" }, "RefSeq": { "hgvs": "NM_000368.5:c.891T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Tyr297Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Tyr297Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915986842", "coordinates": [ { "allele": "G", "end": 1108, "referenceAllele": "T", "start": 1107 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.2:c.891T>G" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Tyr297Ter", "hgvsWellDefined": "NP_001155898.1:p.Tyr297_Ser1163delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678218" }, { "@id": "http://reg.genome.network/allele/PA2825955370", "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.2:c.738T>G" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Tyr246Ter", "hgvsWellDefined": "NP_001155899.1:p.Tyr246_Ser1113delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678219" }, { "@id": "http://reg.genome.network/allele/PA2828059345", "coordinates": [ { "allele": "G", "end": 1004, "referenceAllele": "T", "start": 1003 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.2:c.528T>G" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Tyr176Ter", "hgvsWellDefined": "NP_001349106.1:p.Tyr176_Ser1043delinsAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690502" } ], "type": "nucleotide" }