{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008254", "communityStandardTitle": [ "NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58272[alleleid]", "alleleId": 58272, "preferredName": "NM_000368.5(TSC1):c.825T>G (p.Tyr275Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49110", "RCV": [ "RCV000042365", "RCV000542283" ], "variationId": 49110 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135787757A>C?assembly=hg19", "id": "chr9:g.135787757A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.132912370A>C?assembly=hg38", "id": "chr9:g.132912370A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203454", "rs": 118203454 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 132912370, "referenceAllele": "A", "start": 132912369 } ], "hgvs": [ "NC_000009.12:g.132912370A>C", "CM000671.2:g.132912370A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 135787757, "referenceAllele": "A", "start": 135787756 } ], "hgvs": [ "NC_000009.11:g.135787757A>C", "CM000671.1:g.135787757A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 134777578, "referenceAllele": "A", "start": 134777577 } ], "hgvs": [ "NC_000009.10:g.134777578A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 37264, "referenceAllele": "T", "start": 37263 } ], "hgvs": [ "NG_012386.1:g.37264T>G", "LRG_486:g.37264T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002390" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 982, "referenceAllele": "T", "start": 981 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.7:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000496126.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000496126.2:p.Tyr275_Ser1163delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914126" }, { "coordinates": [ { "allele": "G", "end": 1134, "referenceAllele": "T", "start": 1133 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.4:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000495533.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000495533.2:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914163" }, { "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642261.2:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000494743.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000494743.2:p.Tyr275_Ser738delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914401" }, { "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.2:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000495598.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000495598.2:p.Tyr275_Arg671delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914407" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.2:c.672T>G" ], "proteinEffect": { "hgvs": "ENSP00000496398.2:p.Tyr224Ter", "hgvsWellDefined": "ENSP00000496398.2:p.Tyr224_Ser1035delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914408" }, { "coordinates": [ { "allele": "G", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643625.2:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000495546.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000495546.2:p.Tyr275_Gly696delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914410" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "T", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.2:c.462T>G" ], "proteinEffect": { "hgvs": "ENSP00000494916.2:p.Tyr154Ter", "hgvsWellDefined": "ENSP00000494916.2:p.Tyr154_Ser1043delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914411" }, { "coordinates": [ { "allele": "G", "end": 1049, "referenceAllele": "T", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.2:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000495428.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000495428.2:p.Tyr275_Ser1150delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914412" }, { "coordinates": [ { "allele": "G", "end": 877, "referenceAllele": "T", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.2:c.672T>G" ], "proteinEffect": { "hgvs": "ENSP00000493639.2:p.Tyr224Ter", "hgvsWellDefined": "ENSP00000493639.2:p.Tyr224_Ser1112delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914417" }, { "coordinates": [ { "allele": "G", "end": 1159, "referenceAllele": "T", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646440.2:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000495830.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000495830.2:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914420" }, { "coordinates": [ { "allele": "G", "end": 1053, "referenceAllele": "T", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.2:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Tyr275_Thr381delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914425" }, { "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.9:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744603", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.825T>G" }, "RefSeq": { "hgvs": "NM_000368.5:c.825T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Tyr275Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Tyr275Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 1059, "referenceAllele": "T", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.6:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Tyr275_Ile366delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754067" }, { "coordinates": [ { "allele": "G", "end": 99, "referenceAllele": "T", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000493467.6:n.99T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757737" }, { "coordinates": [ { "allele": "G", "end": 1123, "referenceAllele": "T", "start": 1122 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642344.1:c.*566T>G" ], "proteinEffect": { "hgvs": "ENSP00000494847.1:n.*566T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766689" }, { "coordinates": [ { "allele": "G", "end": 1049, "referenceAllele": "T", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642617.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000493773.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000493773.1:p.Tyr275_Ser1163delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766841" }, { "coordinates": [ { "allele": "G", "end": 1045, "referenceAllele": "T", "start": 1044 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642627.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000496772.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000496772.1:p.Tyr275_Ser1158delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766846" }, { "coordinates": [ { "allele": "G", "end": 1347, "referenceAllele": "T", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642646.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000496292.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000496292.1:p.Tyr275_Thr454delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766858" }, { "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642745.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000493963.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000493963.1:p.Tyr275_Thr454delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766906" }, { "coordinates": [ { "allele": "G", "end": 912, "referenceAllele": "T", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642811.1:c.*595T>G" ], "proteinEffect": { "hgvs": "ENSP00000495554.1:n.*595T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766935" }, { "coordinates": [ { "allele": "G", "end": 1284, "referenceAllele": "T", "start": 1283 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642854.1:c.*610T>G" ], "proteinEffect": { "hgvs": "ENSP00000494639.1:n.*610T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766958" }, { "coordinates": [ { "allele": "G", "end": 889, "referenceAllele": "T", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643072.1:c.672T>G" ], "proteinEffect": { "hgvs": "ENSP00000496691.1:p.Tyr224Ter", "hgvsWellDefined": "ENSP00000496691.1:p.Tyr224_Ser1113delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767076" }, { "coordinates": [ { "allele": "G", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.1:c.672T>G" ], "proteinEffect": { "hgvs": "ENSP00000496398.1:p.Tyr224Ter", "hgvsWellDefined": "ENSP00000496398.1:p.Tyr224_Lys346del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767241" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "T", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643583.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000494685.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000494685.1:p.Tyr275_Ser1159delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767358" }, { "coordinates": [ { "allele": "G", "end": 740, "referenceAllele": "T", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.1:c.462T>G" ], "proteinEffect": { "hgvs": "ENSP00000494916.1:p.Tyr154Ter", "hgvsWellDefined": "ENSP00000494916.1:p.Tyr154Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767414" }, { "coordinates": [ { "allele": "G", "end": 1039, "referenceAllele": "T", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643875.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000495158.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000495158.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767519" }, { "coordinates": [ { "allele": "G", "end": 1166, "referenceAllele": "T", "start": 1165 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644097.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000494682.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000494682.1:p.Tyr275_Ser1163delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767631" }, { "coordinates": [ { "allele": "G", "end": 948, "referenceAllele": "T", "start": 947 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644255.1:c.*595T>G" ], "proteinEffect": { "hgvs": "ENSP00000493608.1:n.*595T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767724" }, { "coordinates": [ { "allele": "G", "end": 552, "referenceAllele": "T", "start": 551 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644319.1:n.552T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767758" }, { "coordinates": [ { "allele": "G", "end": 1090, "referenceAllele": "T", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644997.1:c.*482T>G" ], "proteinEffect": { "hgvs": "ENSP00000495654.1:n.*482T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768113" }, { "coordinates": [ { "allele": "G", "end": 877, "referenceAllele": "T", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.1:c.672T>G" ], "proteinEffect": { "hgvs": "ENSP00000493639.1:p.Tyr224Ter", "hgvsWellDefined": "ENSP00000493639.1:p.Tyr224_Pro347del" }, "referenceSequence": "http://reg.genome.network/refseq/RS768186" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645150.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000494365.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000494365.1:p.Tyr275_Thr454delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768198" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "T", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645901.1:n.1028T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768597" }, { "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646391.1:c.*595T>G" ], "proteinEffect": { "hgvs": "ENSP00000494104.1:n.*595T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768848" }, { "coordinates": [ { "allele": "G", "end": 1030, "referenceAllele": "T", "start": 1029 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646625.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000496263.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000496263.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768978" }, { "coordinates": [ { "allele": "G", "end": 963, "referenceAllele": "T", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Tyr275_Thr381delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769222" }, { "coordinates": [ { "allele": "G", "end": 960, "referenceAllele": "T", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647279.1:c.*64T>G" ], "proteinEffect": { "hgvs": "ENSP00000494502.1:n.*64T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS769329" }, { "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647462.1:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000495821.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000495821.1:p.Tyr275_Thr453delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769427" }, { "coordinates": [ { "allele": "G", "end": 1053, "referenceAllele": "T", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647506.1:n.1053T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS769453" }, { "coordinates": [ { "allele": "G", "end": 1047, "referenceAllele": "T", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.7:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246725" }, { "coordinates": [ { "allele": "G", "end": 1059, "referenceAllele": "T", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.5:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Tyr275_Ile366delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247230" }, { "coordinates": [ { "allele": "G", "end": 908, "referenceAllele": "T", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000440111.6:c.825T>G" ], "proteinEffect": { "hgvs": "ENSP00000394524.2:p.Tyr275Ter", "hgvsWellDefined": "ENSP00000394524.2:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247294" }, { "coordinates": [ { "allele": "G", "end": 1021, "referenceAllele": "T", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000493467.5:n.1021T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS330611" }, { "coordinates": [ { "allele": "G", "end": 755, "referenceAllele": "T", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000545250.5:c.672T>G" ], "proteinEffect": { "hgvs": "ENSP00000444017.1:p.Tyr224Ter", "hgvsWellDefined": "ENSP00000444017.1:p.Tyr224_Ser1113delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247297" }, { "@id": "http://reg.genome.network/allele/PA262411", "coordinates": [ { "allele": "G", "end": 1059, "referenceAllele": "T", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.4:c.825T>G", "LRG_486t1:c.825T>G" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Tyr275Ter", "hgvsWellDefined": "NP_000359.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006430" }, { "@id": "http://reg.genome.network/allele/PA915986796", "coordinates": [ { "allele": "G", "end": 1059, "referenceAllele": "T", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.1:c.825T>G" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Tyr275Ter", "hgvsWellDefined": "NP_001155898.1:p.Tyr275_Ser1163delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014316" }, { "@id": "http://reg.genome.network/allele/PA2825955292", "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "T", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.1:c.672T>G" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Tyr224Ter", "hgvsWellDefined": "NP_001155899.1:p.Tyr224_Ser1113delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014317" }, { "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "T", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_005272211.1:c.825T>G" ], "proteinEffect": { "hgvs": "XP_005272268.1:p.Tyr275Ter", "hgvsWellDefined": "XP_005272268.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067177" }, { "coordinates": [ { "allele": "G", "end": 1039, "referenceAllele": "T", "start": 1038 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717271.1:c.825T>G" ], "proteinEffect": { "hgvs": "XP_006717334.1:p.Tyr275Ter", "hgvsWellDefined": "XP_006717334.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072084" }, { "coordinates": [ { "allele": "G", "end": 1059, "referenceAllele": "T", "start": 1058 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717272.2:c.825T>G" ], "proteinEffect": { "hgvs": "XP_006717335.1:p.Tyr275Ter", "hgvsWellDefined": "XP_006717335.1:p.Tyr275_Phe667delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072085" }, { "coordinates": [ { "allele": "G", "end": 1154, "referenceAllele": "T", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.1:c.825T>G" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Tyr275Ter", "hgvsWellDefined": "XP_011517281.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086153" }, { "@id": "http://reg.genome.network/allele/PA2828059280", "coordinates": [ { "allele": "G", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.1:c.462T>G" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Tyr154Ter", "hgvsWellDefined": "NP_001349106.1:p.Tyr154_Ser1043delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523007" }, { "coordinates": [ { "allele": "G", "end": 1053, "referenceAllele": "T", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.2:c.825T>G" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Tyr275Ter", "hgvsWellDefined": "XP_011517281.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545159" }, { "coordinates": [ { "allele": "G", "end": 1518, "referenceAllele": "T", "start": 1517 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015096.1:c.825T>G" ], "proteinEffect": { "hgvs": "XP_016870585.1:p.Tyr275Ter", "hgvsWellDefined": "XP_016870585.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567917" }, { "coordinates": [ { "allele": "G", "end": 1489, "referenceAllele": "T", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015097.1:c.825T>G" ], "proteinEffect": { "hgvs": "XP_016870586.1:p.Tyr275Ter", "hgvsWellDefined": "XP_016870586.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567918" }, { "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "T", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015098.1:c.825T>G" ], "proteinEffect": { "hgvs": "XP_016870587.1:p.Tyr275Ter", "hgvsWellDefined": "XP_016870587.1:p.Tyr275_Ser1163delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567919" }, { "coordinates": [ { "allele": "G", "end": 1168, "referenceAllele": "T", "start": 1167 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015100.1:c.462T>G" ], "proteinEffect": { "hgvs": "XP_016870589.1:p.Tyr154Ter", "hgvsWellDefined": "XP_016870589.1:p.Tyr154_Ser1043delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567920" }, { "coordinates": [ { "allele": "G", "end": 1198, "referenceAllele": "T", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015101.1:c.462T>G" ], "proteinEffect": { "hgvs": "XP_016870590.1:p.Tyr154Ter", "hgvsWellDefined": "XP_016870590.1:p.Tyr154_Ser1042delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567921" }, { "@id": "http://reg.genome.network/allele/PA262411", "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.5:c.825T>G" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Tyr275Ter", "hgvsWellDefined": "NP_000359.1:p.Tyr275_Ser1164delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674813", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.825T>G" }, "RefSeq": { "hgvs": "NM_000368.5:c.825T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Tyr275Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Tyr275Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915986796", "coordinates": [ { "allele": "G", "end": 1042, "referenceAllele": "T", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.2:c.825T>G" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Tyr275Ter", "hgvsWellDefined": "NP_001155898.1:p.Tyr275_Ser1163delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678218" }, { "@id": "http://reg.genome.network/allele/PA2825955292", "coordinates": [ { "allele": "G", "end": 889, "referenceAllele": "T", "start": 888 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.2:c.672T>G" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Tyr224Ter", "hgvsWellDefined": "NP_001155899.1:p.Tyr224_Ser1113delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678219" }, { "@id": "http://reg.genome.network/allele/PA2828059280", "coordinates": [ { "allele": "G", "end": 938, "referenceAllele": "T", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.2:c.462T>G" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Tyr154Ter", "hgvsWellDefined": "NP_001349106.1:p.Tyr154_Ser1043delinsSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690502" } ], "type": "nucleotide" }