{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA008193", "communityStandardTitle": [ "NM_000368.5(TSC1):c.749T>G (p.Leu250Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58264[alleleid]", "alleleId": 58264, "preferredName": "NM_000368.5(TSC1):c.749T>G (p.Leu250Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49102", "RCV": [ "RCV000042357" ], "variationId": 49102 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135787833A>C?assembly=hg19", "id": "chr9:g.135787833A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.132912446A>C?assembly=hg38", "id": "chr9:g.132912446A>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203447", "rs": 118203447 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 132912446, "referenceAllele": "A", "start": 132912445 } ], "hgvs": [ "NC_000009.12:g.132912446A>C", "CM000671.2:g.132912446A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 135787833, "referenceAllele": "A", "start": 135787832 } ], "hgvs": [ "NC_000009.11:g.135787833A>C", "CM000671.1:g.135787833A>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "C", "end": 134777654, "referenceAllele": "A", "start": 134777653 } ], "hgvs": [ "NC_000009.10:g.134777654A>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "G", "end": 37188, "referenceAllele": "T", "start": 37187 } ], "hgvs": [ "NG_012386.1:g.37188T>G", "LRG_486:g.37188T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002390" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 906, "referenceAllele": "T", "start": 905 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.7:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000496126.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000496126.2:p.Leu250_Ser1163delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914126" }, { "coordinates": [ { "allele": "G", "end": 1058, "referenceAllele": "T", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.4:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000495533.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000495533.2:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914163" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642261.2:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000494743.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000494743.2:p.Leu250_Ser738delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914401" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.2:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000495598.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000495598.2:p.Leu250_Arg671delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914407" }, { "coordinates": [ { "allele": "G", "end": 855, "referenceAllele": "T", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.2:c.596T>G" ], "proteinEffect": { "hgvs": "ENSP00000496398.2:p.Leu199Ter", "hgvsWellDefined": "ENSP00000496398.2:p.Leu199_Ser1035delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914408" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "T", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643625.2:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000495546.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000495546.2:p.Leu250_Gly696delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914410" }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.2:c.386T>G" ], "proteinEffect": { "hgvs": "ENSP00000494916.2:p.Leu129Ter", "hgvsWellDefined": "ENSP00000494916.2:p.Leu129_Ser1043delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914411" }, { "coordinates": [ { "allele": "G", "end": 973, "referenceAllele": "T", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.2:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000495428.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000495428.2:p.Leu250_Ser1150delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914412" }, { "coordinates": [ { "allele": "G", "end": 801, "referenceAllele": "T", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.2:c.596T>G" ], "proteinEffect": { "hgvs": "ENSP00000493639.2:p.Leu199Ter", "hgvsWellDefined": "ENSP00000493639.2:p.Leu199_Ser1112delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914417" }, { "coordinates": [ { "allele": "G", "end": 1083, "referenceAllele": "T", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646440.2:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000495830.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000495830.2:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914420" }, { "coordinates": [ { "allele": "G", "end": 977, "referenceAllele": "T", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.2:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Leu250_Thr381delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914425" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.9:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Leu250Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744603", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.749T>G" }, "RefSeq": { "hgvs": "NM_000368.5:c.749T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Leu250Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Leu250Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "T", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.6:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Leu250_Ile366delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754067" }, { "coordinates": [ { "allele": "G", "end": 23, "referenceAllele": "T", "start": 22 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000493467.6:n.23T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS757737" }, { "coordinates": [ { "allele": "G", "end": 1047, "referenceAllele": "T", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642344.1:c.*490T>G" ], "proteinEffect": { "hgvs": "ENSP00000494847.1:n.*490T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766689" }, { "coordinates": [ { "allele": "G", "end": 973, "referenceAllele": "T", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642617.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000493773.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000493773.1:p.Leu250_Ser1163delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766841" }, { "coordinates": [ { "allele": "G", "end": 969, "referenceAllele": "T", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642627.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000496772.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000496772.1:p.Leu250_Ser1158delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766846" }, { "coordinates": [ { "allele": "G", "end": 1271, "referenceAllele": "T", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642646.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000496292.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000496292.1:p.Leu250_Thr454delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766858" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642745.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000493963.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000493963.1:p.Leu250_Thr454delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766906" }, { "coordinates": [ { "allele": "G", "end": 836, "referenceAllele": "T", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642811.1:c.*519T>G" ], "proteinEffect": { "hgvs": "ENSP00000495554.1:n.*519T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766935" }, { "coordinates": [ { "allele": "G", "end": 1208, "referenceAllele": "T", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642854.1:c.*534T>G" ], "proteinEffect": { "hgvs": "ENSP00000494639.1:n.*534T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS766958" }, { "coordinates": [ { "allele": "G", "end": 813, "referenceAllele": "T", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643072.1:c.596T>G" ], "proteinEffect": { "hgvs": "ENSP00000496691.1:p.Leu199Ter", "hgvsWellDefined": "ENSP00000496691.1:p.Leu199_Ser1113delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767076" }, { "coordinates": [ { "allele": "G", "end": 855, "referenceAllele": "T", "start": 854 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.1:c.596T>G" ], "proteinEffect": { "hgvs": "ENSP00000496398.1:p.Leu199Ter", "hgvsWellDefined": "ENSP00000496398.1:p.Leu199_Lys346del" }, "referenceSequence": "http://reg.genome.network/refseq/RS767241" }, { "coordinates": [ { "allele": "G", "end": 965, "referenceAllele": "T", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643583.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000494685.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000494685.1:p.Leu250_Ser1159delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767358" }, { "coordinates": [ { "allele": "G", "end": 664, "referenceAllele": "T", "start": 663 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.1:c.386T>G" ], "proteinEffect": { "hgvs": "ENSP00000494916.1:p.Leu129Ter", "hgvsWellDefined": "ENSP00000494916.1:p.Leu129Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767414" }, { "coordinates": [ { "allele": "G", "end": 963, "referenceAllele": "T", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643875.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000495158.1:p.Leu250Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767519" }, { "coordinates": [ { "allele": "G", "end": 1090, "referenceAllele": "T", "start": 1089 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644097.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000494682.1:p.Leu250Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767631" }, { "coordinates": [ { "allele": "G", "end": 872, "referenceAllele": "T", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644255.1:c.*519T>G" ], "proteinEffect": { "hgvs": "ENSP00000493608.1:n.*519T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767724" }, { "coordinates": [ { "allele": "G", "end": 476, "referenceAllele": "T", "start": 475 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644319.1:n.476T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767758" }, { "coordinates": [ { "allele": "G", "end": 1014, "referenceAllele": "T", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644997.1:c.*406T>G" ], "proteinEffect": { "hgvs": "ENSP00000495654.1:n.*406T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768113" }, { "coordinates": [ { "allele": "G", "end": 801, "referenceAllele": "T", "start": 800 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.1:c.596T>G" ], "proteinEffect": { "hgvs": "ENSP00000493639.1:p.Leu199Ter", "hgvsWellDefined": "ENSP00000493639.1:p.Leu199_Pro347del" }, "referenceSequence": "http://reg.genome.network/refseq/RS768186" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "T", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645150.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000494365.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000494365.1:p.Leu250_Thr454delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768198" }, { "coordinates": [ { "allele": "G", "end": 952, "referenceAllele": "T", "start": 951 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645901.1:n.952T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768597" }, { "coordinates": [ { "allele": "G", "end": 879, "referenceAllele": "T", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646391.1:c.*519T>G" ], "proteinEffect": { "hgvs": "ENSP00000494104.1:n.*519T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS768848" }, { "coordinates": [ { "allele": "G", "end": 954, "referenceAllele": "T", "start": 953 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646625.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000496263.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000496263.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768978" }, { "coordinates": [ { "allele": "G", "end": 887, "referenceAllele": "T", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Leu250_Thr381delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769222" }, { "coordinates": [ { "allele": "G", "end": 884, "referenceAllele": "T", "start": 883 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647279.1:c.675T>G" ], "proteinEffect": { "hgvs": "ENSP00000494502.1:p.Ile225Met", "hgvsWellDefined": "ENSP00000494502.1:p.Ile225Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS769329" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647462.1:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000495821.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000495821.1:p.Leu250_Thr453delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769427" }, { "coordinates": [ { "allele": "G", "end": 977, "referenceAllele": "T", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647506.1:n.977T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS769453" }, { "coordinates": [ { "allele": "G", "end": 971, "referenceAllele": "T", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.7:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Leu250Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246725" }, { "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "T", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.5:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Leu250Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Leu250_Ile366delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247230" }, { "coordinates": [ { "allele": "G", "end": 832, "referenceAllele": "T", "start": 831 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000440111.6:c.749T>G" ], "proteinEffect": { "hgvs": "ENSP00000394524.2:p.Leu250Ter", "hgvsWellDefined": "ENSP00000394524.2:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247294" }, { "coordinates": [ { "allele": "G", "end": 945, "referenceAllele": "T", "start": 944 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000493467.5:n.945T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS330611" }, { "coordinates": [ { "allele": "G", "end": 679, "referenceAllele": "T", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000545250.5:c.596T>G" ], "proteinEffect": { "hgvs": "ENSP00000444017.1:p.Leu199Ter", "hgvsWellDefined": "ENSP00000444017.1:p.Leu199_Ser1113delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247297" }, { "@id": "http://reg.genome.network/allele/PA253415", "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "T", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.4:c.749T>G", "LRG_486t1:c.749T>G" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Leu250Ter", "hgvsWellDefined": "NP_000359.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006430" }, { "@id": "http://reg.genome.network/allele/PA915986720", "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "T", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.1:c.749T>G" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Leu250Ter", "hgvsWellDefined": "NP_001155898.1:p.Leu250_Ser1163delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014316" }, { "@id": "http://reg.genome.network/allele/PA2825955218", "coordinates": [ { "allele": "G", "end": 830, "referenceAllele": "T", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.1:c.596T>G" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Leu199Ter", "hgvsWellDefined": "NP_001155899.1:p.Leu199_Ser1113delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014317" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "T", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_005272211.1:c.749T>G" ], "proteinEffect": { "hgvs": "XP_005272268.1:p.Leu250Ter", "hgvsWellDefined": "XP_005272268.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067177" }, { "coordinates": [ { "allele": "G", "end": 963, "referenceAllele": "T", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717271.1:c.749T>G" ], "proteinEffect": { "hgvs": "XP_006717334.1:p.Leu250Ter", "hgvsWellDefined": "XP_006717334.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072084" }, { "coordinates": [ { "allele": "G", "end": 983, "referenceAllele": "T", "start": 982 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717272.2:c.749T>G" ], "proteinEffect": { "hgvs": "XP_006717335.1:p.Leu250Ter", "hgvsWellDefined": "XP_006717335.1:p.Leu250_Phe667delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072085" }, { "coordinates": [ { "allele": "G", "end": 1078, "referenceAllele": "T", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.1:c.749T>G" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Leu250Ter", "hgvsWellDefined": "XP_011517281.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086153" }, { "@id": "http://reg.genome.network/allele/PA2828059214", "coordinates": [ { "allele": "G", "end": 879, "referenceAllele": "T", "start": 878 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.1:c.386T>G" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Leu129Ter", "hgvsWellDefined": "NP_001349106.1:p.Leu129_Ser1043delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523007" }, { "coordinates": [ { "allele": "G", "end": 977, "referenceAllele": "T", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.2:c.749T>G" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Leu250Ter", "hgvsWellDefined": "XP_011517281.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545159" }, { "coordinates": [ { "allele": "G", "end": 1442, "referenceAllele": "T", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015096.1:c.749T>G" ], "proteinEffect": { "hgvs": "XP_016870585.1:p.Leu250Ter", "hgvsWellDefined": "XP_016870585.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567917" }, { "coordinates": [ { "allele": "G", "end": 1413, "referenceAllele": "T", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015097.1:c.749T>G" ], "proteinEffect": { "hgvs": "XP_016870586.1:p.Leu250Ter", "hgvsWellDefined": "XP_016870586.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567918" }, { "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "T", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015098.1:c.749T>G" ], "proteinEffect": { "hgvs": "XP_016870587.1:p.Leu250Ter", "hgvsWellDefined": "XP_016870587.1:p.Leu250_Ser1163delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567919" }, { "coordinates": [ { "allele": "G", "end": 1092, "referenceAllele": "T", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015100.1:c.386T>G" ], "proteinEffect": { "hgvs": "XP_016870589.1:p.Leu129Ter", "hgvsWellDefined": "XP_016870589.1:p.Leu129_Ser1043delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567920" }, { "coordinates": [ { "allele": "G", "end": 1122, "referenceAllele": "T", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015101.1:c.386T>G" ], "proteinEffect": { "hgvs": "XP_016870590.1:p.Leu129Ter", "hgvsWellDefined": "XP_016870590.1:p.Leu129_Ser1042delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567921" }, { "@id": "http://reg.genome.network/allele/PA253415", "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.5:c.749T>G" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Leu250Ter", "hgvsWellDefined": "NP_000359.1:p.Leu250_Ser1164delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674813", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.749T>G" }, "RefSeq": { "hgvs": "NM_000368.5:c.749T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Leu250Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Leu250Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915986720", "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "T", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.2:c.749T>G" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Leu250Ter", "hgvsWellDefined": "NP_001155898.1:p.Leu250_Ser1163delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678218" }, { "@id": "http://reg.genome.network/allele/PA2825955218", "coordinates": [ { "allele": "G", "end": 813, "referenceAllele": "T", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.2:c.596T>G" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Leu199Ter", "hgvsWellDefined": "NP_001155899.1:p.Leu199_Ser1113delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678219" }, { "@id": "http://reg.genome.network/allele/PA2828059214", "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "T", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.2:c.386T>G" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Leu129Ter", "hgvsWellDefined": "NP_001349106.1:p.Leu129_Ser1043delinsGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690502" } ], "type": "nucleotide" }