{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA004986", "communityStandardTitle": [ "NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57958[alleleid]", "alleleId": 57958, "preferredName": "NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48796", "RCV": [ "RCV000042043", "RCV000055036", "RCV000189847", "RCV000201132", "RCV000515319", "RCV002390181" ], "variationId": 48796 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135781440G>A?assembly=hg19", "id": "chr9:g.135781440G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.132906053G>A?assembly=hg38", "id": "chr9:g.132906053G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203542", "rs": 118203542 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 132906053, "referenceAllele": "G", "start": 132906052 } ], "hgvs": [ "NC_000009.12:g.132906053G>A", "CM000671.2:g.132906053G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 135781440, "referenceAllele": "G", "start": 135781439 } ], "hgvs": [ "NC_000009.11:g.135781440G>A", "CM000671.1:g.135781440G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 134771261, "referenceAllele": "G", "start": 134771260 } ], "hgvs": [ "NC_000009.10:g.134771261G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 43581, "referenceAllele": "C", "start": 43580 } ], "hgvs": [ "NG_012386.1:g.43581C>T", "LRG_486:g.43581C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002390" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1679, "referenceAllele": "C", "start": 1678 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.7:c.1522C>T" ], "proteinEffect": { "hgvs": "ENSP00000496126.2:p.Arg508Ter", "hgvsWellDefined": "ENSP00000496126.2:p.Arg508_Ser1163delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914126" }, { "coordinates": [ { "allele": "T", "end": 1834, "referenceAllele": "C", "start": 1833 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.4:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000495533.2:p.Arg509Ter", "hgvsWellDefined": "ENSP00000495533.2:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914163" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642261.2:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000494743.2:p.Arg509Ter", "hgvsWellDefined": "ENSP00000494743.2:p.Arg509_Ser738delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914401" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.2:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000495598.2:p.Arg509Ter", "hgvsWellDefined": "ENSP00000495598.2:p.Arg509_Arg671delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914407" }, { "coordinates": [ { "allele": "T", "end": 1397, "referenceAllele": "C", "start": 1396 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.2:c.1138C>T" ], "proteinEffect": { "hgvs": "ENSP00000496398.2:p.Arg380Ter", "hgvsWellDefined": "ENSP00000496398.2:p.Arg380_Ser1035delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914408" }, { "coordinates": [ { "allele": "T", "end": 1721, "referenceAllele": "C", "start": 1720 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643625.2:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000495546.2:p.Arg509Ter", "hgvsWellDefined": "ENSP00000495546.2:p.Arg509_Gly696delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914410" }, { "coordinates": [ { "allele": "T", "end": 1440, "referenceAllele": "C", "start": 1439 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.2:c.1162C>T" ], "proteinEffect": { "hgvs": "ENSP00000494916.2:p.Arg388Ter", "hgvsWellDefined": "ENSP00000494916.2:p.Arg388_Ser1043delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914411" }, { "coordinates": [ { "allele": "T", "end": 1749, "referenceAllele": "C", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.2:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000495428.2:p.Arg509Ter", "hgvsWellDefined": "ENSP00000495428.2:p.Arg509_Ser1150delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914412" }, { "coordinates": [ { "allele": "T", "end": 1574, "referenceAllele": "C", "start": 1573 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.2:c.1369C>T" ], "proteinEffect": { "hgvs": "ENSP00000493639.2:p.Arg457Ter", "hgvsWellDefined": "ENSP00000493639.2:p.Arg457_Ser1112delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914417" }, { "coordinates": [ { "allele": "T", "end": 1859, "referenceAllele": "C", "start": 1858 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646440.2:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000495830.2:p.Arg509Ter", "hgvsWellDefined": "ENSP00000495830.2:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914420" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.9:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Arg509Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744603", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.1525C>T" }, "RefSeq": { "hgvs": "NM_000368.5:c.1525C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Arg509Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Arg509Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1746, "referenceAllele": "C", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642617.1:c.1522C>T" ], "proteinEffect": { "hgvs": "ENSP00000493773.1:p.Arg508Ter", "hgvsWellDefined": "ENSP00000493773.1:p.Arg508_Ser1163delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766841" }, { "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642627.1:c.1522C>T" ], "proteinEffect": { "hgvs": "ENSP00000496772.1:p.Arg508Ter", "hgvsWellDefined": "ENSP00000496772.1:p.Arg508_Ser1158delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766846" }, { "coordinates": [ { "allele": "T", "end": 1612, "referenceAllele": "C", "start": 1611 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642811.1:c.*1295C>T" ], "proteinEffect": { "hgvs": "ENSP00000495554.1:n.*1295C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766935" }, { "coordinates": [ { "allele": "T", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643072.1:c.1372C>T" ], "proteinEffect": { "hgvs": "ENSP00000496691.1:p.Arg458Ter", "hgvsWellDefined": "ENSP00000496691.1:p.Arg458_Ser1113delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767076" }, { "coordinates": [ { "allele": "T", "end": 43, "referenceAllele": "C", "start": 42 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.1:c.43C>T" ], "proteinEffect": { "hgvs": "ENSP00000495598.1:p.Arg15Ter", "hgvsWellDefined": "ENSP00000495598.1:p.Arg15_Arg177delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767191" }, { "coordinates": [ { "allele": "T", "end": 1741, "referenceAllele": "C", "start": 1740 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643583.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000494685.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000494685.1:p.Arg509_Ser1159delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767358" }, { "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643875.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000495158.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000495158.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767519" }, { "coordinates": [ { "allele": "T", "end": 1863, "referenceAllele": "C", "start": 1862 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644097.1:c.1522C>T" ], "proteinEffect": { "hgvs": "ENSP00000494682.1:p.Arg508Ter", "hgvsWellDefined": "ENSP00000494682.1:p.Arg508_Ser1163delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767631" }, { "coordinates": [ { "allele": "T", "end": 262, "referenceAllele": "C", "start": 261 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.1:c.262C>T" ], "proteinEffect": { "hgvs": "ENSP00000495428.1:p.Arg88Ter", "hgvsWellDefined": "ENSP00000495428.1:p.Arg88_Ser729delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767683" }, { "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "C", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644255.1:c.*1292C>T" ], "proteinEffect": { "hgvs": "ENSP00000493608.1:n.*1292C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767724" }, { "coordinates": [ { "allele": "T", "end": 1900, "referenceAllele": "C", "start": 1899 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644319.1:n.1900C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767758" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "C", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644882.1:n.480C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768053" }, { "coordinates": [ { "allele": "T", "end": 2376, "referenceAllele": "C", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645901.1:n.2376C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768597" }, { "coordinates": [ { "allele": "T", "end": 1655, "referenceAllele": "C", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646391.1:c.*1295C>T" ], "proteinEffect": { "hgvs": "ENSP00000494104.1:n.*1295C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768848" }, { "coordinates": [ { "allele": "T", "end": 1730, "referenceAllele": "C", "start": 1729 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646625.1:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000496263.1:p.Arg509Ter", "hgvsWellDefined": "ENSP00000496263.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768978" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "C", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647262.1:n.490C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769321" }, { "coordinates": [ { "allele": "T", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647279.1:c.*764C>T" ], "proteinEffect": { "hgvs": "ENSP00000494502.1:n.*764C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769329" }, { "coordinates": [ { "allele": "T", "end": 2401, "referenceAllele": "C", "start": 2400 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647506.1:n.2401C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769453" }, { "coordinates": [ { "allele": "T", "end": 589, "referenceAllele": "C", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647534.1:n.589C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769469" }, { "coordinates": [ { "allele": "T", "end": 1747, "referenceAllele": "C", "start": 1746 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.7:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Arg509Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246725" }, { "coordinates": [ { "allele": "T", "end": 1608, "referenceAllele": "C", "start": 1607 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000440111.6:c.1525C>T" ], "proteinEffect": { "hgvs": "ENSP00000394524.2:p.Arg509Ter", "hgvsWellDefined": "ENSP00000394524.2:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247294" }, { "coordinates": [ { "allele": "T", "end": 1455, "referenceAllele": "C", "start": 1454 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000545250.5:c.1372C>T" ], "proteinEffect": { "hgvs": "ENSP00000444017.1:p.Arg458Ter", "hgvsWellDefined": "ENSP00000444017.1:p.Arg458_Ser1113delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247297" }, { "@id": "http://reg.genome.network/allele/PA214876", "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "C", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.4:c.1525C>T", "LRG_486t1:c.1525C>T" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Arg509Ter", "hgvsWellDefined": "NP_000359.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006430" }, { "@id": "http://reg.genome.network/allele/PA2825917867", "coordinates": [ { "allele": "T", "end": 1756, "referenceAllele": "C", "start": 1755 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.1:c.1522C>T" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Arg508Ter", "hgvsWellDefined": "NP_001155898.1:p.Arg508_Ser1163delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014316" }, { "@id": "http://reg.genome.network/allele/PA2825956087", "coordinates": [ { "allele": "T", "end": 1606, "referenceAllele": "C", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.1:c.1372C>T" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Arg458Ter", "hgvsWellDefined": "NP_001155899.1:p.Arg458_Ser1113delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014317" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_005272211.1:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_005272268.1:p.Arg509Ter", "hgvsWellDefined": "XP_005272268.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067177" }, { "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717271.1:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_006717334.1:p.Arg509Ter", "hgvsWellDefined": "XP_006717334.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072084" }, { "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "C", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717272.2:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_006717335.1:p.Arg509Ter", "hgvsWellDefined": "XP_006717335.1:p.Arg509_Phe667delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072085" }, { "coordinates": [ { "allele": "T", "end": 1854, "referenceAllele": "C", "start": 1853 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.1:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Arg509Ter", "hgvsWellDefined": "XP_011517281.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086153" }, { "@id": "http://reg.genome.network/allele/PA2828059866", "coordinates": [ { "allele": "T", "end": 1655, "referenceAllele": "C", "start": 1654 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.1:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Arg388Ter", "hgvsWellDefined": "NP_001349106.1:p.Arg388_Ser1043delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523007" }, { "coordinates": [ { "allele": "T", "end": 1753, "referenceAllele": "C", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.2:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Arg509Ter", "hgvsWellDefined": "XP_011517281.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545159" }, { "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "C", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015096.1:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_016870585.1:p.Arg509Ter", "hgvsWellDefined": "XP_016870585.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567917" }, { "coordinates": [ { "allele": "T", "end": 2189, "referenceAllele": "C", "start": 2188 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015097.1:c.1525C>T" ], "proteinEffect": { "hgvs": "XP_016870586.1:p.Arg509Ter", "hgvsWellDefined": "XP_016870586.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567918" }, { "coordinates": [ { "allele": "T", "end": 1801, "referenceAllele": "C", "start": 1800 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015098.1:c.1522C>T" ], "proteinEffect": { "hgvs": "XP_016870587.1:p.Arg508Ter", "hgvsWellDefined": "XP_016870587.1:p.Arg508_Ser1163delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567919" }, { "coordinates": [ { "allele": "T", "end": 1868, "referenceAllele": "C", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015100.1:c.1162C>T" ], "proteinEffect": { "hgvs": "XP_016870589.1:p.Arg388Ter", "hgvsWellDefined": "XP_016870589.1:p.Arg388_Ser1043delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567920" }, { "coordinates": [ { "allele": "T", "end": 1895, "referenceAllele": "C", "start": 1894 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015101.1:c.1159C>T" ], "proteinEffect": { "hgvs": "XP_016870590.1:p.Arg387Ter", "hgvsWellDefined": "XP_016870590.1:p.Arg387_Ser1042delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567921" }, { "@id": "http://reg.genome.network/allele/PA214876", "coordinates": [ { "allele": "T", "end": 1742, "referenceAllele": "C", "start": 1741 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.5:c.1525C>T" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Arg509Ter", "hgvsWellDefined": "NP_000359.1:p.Arg509_Ser1164delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674813", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.1525C>T" }, "RefSeq": { "hgvs": "NM_000368.5:c.1525C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Arg509Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Arg509Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825917867", "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.2:c.1522C>T" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Arg508Ter", "hgvsWellDefined": "NP_001155898.1:p.Arg508_Ser1163delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678218" }, { "@id": "http://reg.genome.network/allele/PA2825956087", "coordinates": [ { "allele": "T", "end": 1589, "referenceAllele": "C", "start": 1588 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.2:c.1372C>T" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Arg458Ter", "hgvsWellDefined": "NP_001155899.1:p.Arg458_Ser1113delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678219" }, { "@id": "http://reg.genome.network/allele/PA2828059866", "coordinates": [ { "allele": "T", "end": 1638, "referenceAllele": "C", "start": 1637 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.2:c.1162C>T" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Arg388Ter", "hgvsWellDefined": "NP_001349106.1:p.Arg388_Ser1043delinsAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690502" } ], "type": "nucleotide" }