{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA005658", "communityStandardTitle": [ "NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58020[alleleid]", "alleleId": 58020, "preferredName": "NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48858", "RCV": [ "RCV000042109", "RCV000713908", "RCV000698745", "RCV002415486" ], "variationId": 48858 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135781005G>A?assembly=hg19", "id": "chr9:g.135781005G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.132905618G>A?assembly=hg38", "id": "chr9:g.132905618G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/75820036", "rs": 75820036 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 132905618, "referenceAllele": "G", "start": 132905617 } ], "hgvs": [ "NC_000009.12:g.132905618G>A", "CM000671.2:g.132905618G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 135781005, "referenceAllele": "G", "start": 135781004 } ], "hgvs": [ "NC_000009.11:g.135781005G>A", "CM000671.1:g.135781005G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 134770826, "referenceAllele": "G", "start": 134770825 } ], "hgvs": [ "NC_000009.10:g.134770826G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 44016, "referenceAllele": "C", "start": 44015 } ], "hgvs": [ "NG_012386.1:g.44016C>T", "LRG_486:g.44016C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002390" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2114, "referenceAllele": "C", "start": 2113 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.7:c.1957C>T" ], "proteinEffect": { "hgvs": "ENSP00000496126.2:p.Gln653Ter", "hgvsWellDefined": "ENSP00000496126.2:p.Gln654_Ser1163delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914126" }, { "coordinates": [ { "allele": "T", "end": 2269, "referenceAllele": "C", "start": 2268 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.4:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000495533.2:p.Gln654Ter", "hgvsWellDefined": "ENSP00000495533.2:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914163" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642261.2:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000494743.2:p.Gln654Ter", "hgvsWellDefined": "ENSP00000494743.2:p.Gln655_Ser738delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914401" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.2:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000495598.2:p.Gln654Ter", "hgvsWellDefined": "ENSP00000495598.2:p.Gln655_Arg671delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914407" }, { "coordinates": [ { "allele": "T", "end": 1832, "referenceAllele": "C", "start": 1831 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.2:c.1573C>T" ], "proteinEffect": { "hgvs": "ENSP00000496398.2:p.Gln525Ter", "hgvsWellDefined": "ENSP00000496398.2:p.Gln526_Ser1035delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914408" }, { "coordinates": [ { "allele": "T", "end": 2156, "referenceAllele": "C", "start": 2155 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643625.2:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000495546.2:p.Gln654Ter", "hgvsWellDefined": "ENSP00000495546.2:p.Gln655_Gly696delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914410" }, { "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.2:c.1597C>T" ], "proteinEffect": { "hgvs": "ENSP00000494916.2:p.Gln533Ter", "hgvsWellDefined": "ENSP00000494916.2:p.Gln534_Ser1043delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914411" }, { "coordinates": [ { "allele": "T", "end": 2184, "referenceAllele": "C", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.2:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000495428.2:p.Gln654Ter", "hgvsWellDefined": "ENSP00000495428.2:p.Gln655_Ser1150delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914412" }, { "coordinates": [ { "allele": "T", "end": 2009, "referenceAllele": "C", "start": 2008 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.2:c.1804C>T" ], "proteinEffect": { "hgvs": "ENSP00000493639.2:p.Gln602Ter", "hgvsWellDefined": "ENSP00000493639.2:p.Gln603_Ser1112delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914417" }, { "coordinates": [ { "allele": "T", "end": 2294, "referenceAllele": "C", "start": 2293 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646440.2:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000495830.2:p.Gln654Ter", "hgvsWellDefined": "ENSP00000495830.2:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914420" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.9:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Gln654Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744603", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.1960C>T" }, "RefSeq": { "hgvs": "NM_000368.5:c.1960C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Gln654Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Gln654Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 24, "referenceAllele": "C", "start": 23 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642261.1:c.24C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766645" }, { "coordinates": [ { "allele": "T", "end": 2181, "referenceAllele": "C", "start": 2180 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642617.1:c.1957C>T" ], "proteinEffect": { "hgvs": "ENSP00000493773.1:p.Gln653Ter", "hgvsWellDefined": "ENSP00000493773.1:p.Gln654_Ser1163delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766841" }, { "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642627.1:c.1957C>T" ], "proteinEffect": { "hgvs": "ENSP00000496772.1:p.Gln653Ter", "hgvsWellDefined": "ENSP00000496772.1:p.Gln654_Ser1158delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766846" }, { "coordinates": [ { "allele": "T", "end": 2047, "referenceAllele": "C", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642811.1:c.*1730C>T" ], "proteinEffect": { "hgvs": "ENSP00000495554.1:n.*1730C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS766935" }, { "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643072.1:c.1807C>T" ], "proteinEffect": { "hgvs": "ENSP00000496691.1:p.Gln603Ter", "hgvsWellDefined": "ENSP00000496691.1:p.Gln604_Ser1113delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767076" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.1:c.478C>T" ], "proteinEffect": { "hgvs": "ENSP00000495598.1:p.Gln160Ter", "hgvsWellDefined": "ENSP00000495598.1:p.Gln161_Arg177delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767191" }, { "coordinates": [ { "allele": "T", "end": 2176, "referenceAllele": "C", "start": 2175 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643583.1:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000494685.1:p.Gln654Ter", "hgvsWellDefined": "ENSP00000494685.1:p.Gln655_Ser1159delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767358" }, { "coordinates": [ { "allele": "T", "end": 4, "referenceAllele": "C", "start": 3 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643625.1:c.4C>T" ], "proteinEffect": { "hgvs": "ENSP00000495546.1:p.Gln2Ter", "hgvsWellDefined": "ENSP00000495546.1:p.Gln3_Gly44delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767383" }, { "coordinates": [ { "allele": "T", "end": 2174, "referenceAllele": "C", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643875.1:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000495158.1:p.Gln654Ter", "hgvsWellDefined": "ENSP00000495158.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767519" }, { "coordinates": [ { "allele": "T", "end": 2298, "referenceAllele": "C", "start": 2297 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644097.1:c.1957C>T" ], "proteinEffect": { "hgvs": "ENSP00000494682.1:p.Gln653Ter", "hgvsWellDefined": "ENSP00000494682.1:p.Gln654_Ser1163delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767631" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.1:c.697C>T" ], "proteinEffect": { "hgvs": "ENSP00000495428.1:p.Gln233Ter", "hgvsWellDefined": "ENSP00000495428.1:p.Gln234_Ser729delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767683" }, { "coordinates": [ { "allele": "T", "end": 2080, "referenceAllele": "C", "start": 2079 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644255.1:c.*1727C>T" ], "proteinEffect": { "hgvs": "ENSP00000493608.1:n.*1727C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767724" }, { "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644319.1:n.2335C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767758" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644882.1:n.915C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768053" }, { "coordinates": [ { "allele": "T", "end": 2811, "referenceAllele": "C", "start": 2810 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645901.1:n.2811C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768597" }, { "coordinates": [ { "allele": "T", "end": 2090, "referenceAllele": "C", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646391.1:c.*1730C>T" ], "proteinEffect": { "hgvs": "ENSP00000494104.1:n.*1730C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768848" }, { "coordinates": [ { "allele": "T", "end": 2165, "referenceAllele": "C", "start": 2164 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646625.1:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000496263.1:p.Gln654Ter", "hgvsWellDefined": "ENSP00000496263.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768978" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647262.1:n.925C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769321" }, { "coordinates": [ { "allele": "T", "end": 2095, "referenceAllele": "C", "start": 2094 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647279.1:c.*1199C>T" ], "proteinEffect": { "hgvs": "ENSP00000494502.1:n.*1199C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769329" }, { "coordinates": [ { "allele": "T", "end": 2836, "referenceAllele": "C", "start": 2835 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647506.1:n.2836C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769453" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647534.1:n.1024C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769469" }, { "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.7:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Gln654Ter", "hgvsWellDefined": "ENSP00000298552.3:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246725" }, { "coordinates": [ { "allele": "T", "end": 2043, "referenceAllele": "C", "start": 2042 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000440111.6:c.1960C>T" ], "proteinEffect": { "hgvs": "ENSP00000394524.2:p.Gln654Ter", "hgvsWellDefined": "ENSP00000394524.2:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247294" }, { "coordinates": [ { "allele": "T", "end": 1890, "referenceAllele": "C", "start": 1889 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000545250.5:c.1807C>T" ], "proteinEffect": { "hgvs": "ENSP00000444017.1:p.Gln603Ter", "hgvsWellDefined": "ENSP00000444017.1:p.Gln604_Ser1113delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247297" }, { "@id": "http://reg.genome.network/allele/PA262222", "coordinates": [ { "allele": "T", "end": 2194, "referenceAllele": "C", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.4:c.1960C>T", "LRG_486t1:c.1960C>T" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Gln654Ter", "hgvsWellDefined": "NP_000359.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006430" }, { "@id": "http://reg.genome.network/allele/PA2825918257", "coordinates": [ { "allele": "T", "end": 2191, "referenceAllele": "C", "start": 2190 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.1:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Gln653Ter", "hgvsWellDefined": "NP_001155898.1:p.Gln654_Ser1163delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014316" }, { "@id": "http://reg.genome.network/allele/PA2825956643", "coordinates": [ { "allele": "T", "end": 2041, "referenceAllele": "C", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.1:c.1807C>T" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Gln603Ter", "hgvsWellDefined": "NP_001155899.1:p.Gln604_Ser1113delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014317" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "C", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_005272211.1:c.1960C>T" ], "proteinEffect": { "hgvs": "XP_005272268.1:p.Gln654Ter", "hgvsWellDefined": "XP_005272268.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067177" }, { "coordinates": [ { "allele": "T", "end": 2174, "referenceAllele": "C", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717271.1:c.1960C>T" ], "proteinEffect": { "hgvs": "XP_006717334.1:p.Gln654Ter", "hgvsWellDefined": "XP_006717334.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072084" }, { "coordinates": [ { "allele": "T", "end": 2194, "referenceAllele": "C", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717272.2:c.1960C>T" ], "proteinEffect": { "hgvs": "XP_006717335.1:p.Gln654Ter", "hgvsWellDefined": "XP_006717335.1:p.Gln655_Phe667delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072085" }, { "coordinates": [ { "allele": "T", "end": 2289, "referenceAllele": "C", "start": 2288 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.1:c.1960C>T" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Gln654Ter", "hgvsWellDefined": "XP_011517281.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086153" }, { "@id": "http://reg.genome.network/allele/PA2828060247", "coordinates": [ { "allele": "T", "end": 2090, "referenceAllele": "C", "start": 2089 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.1:c.1597C>T" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Gln533Ter", "hgvsWellDefined": "NP_001349106.1:p.Gln534_Ser1043delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523007" }, { "coordinates": [ { "allele": "T", "end": 2188, "referenceAllele": "C", "start": 2187 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.2:c.1960C>T" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Gln654Ter", "hgvsWellDefined": "XP_011517281.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545159" }, { "coordinates": [ { "allele": "T", "end": 2653, "referenceAllele": "C", "start": 2652 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015096.1:c.1960C>T" ], "proteinEffect": { "hgvs": "XP_016870585.1:p.Gln654Ter", "hgvsWellDefined": "XP_016870585.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567917" }, { "coordinates": [ { "allele": "T", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015097.1:c.1960C>T" ], "proteinEffect": { "hgvs": "XP_016870586.1:p.Gln654Ter", "hgvsWellDefined": "XP_016870586.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567918" }, { "coordinates": [ { "allele": "T", "end": 2236, "referenceAllele": "C", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015098.1:c.1957C>T" ], "proteinEffect": { "hgvs": "XP_016870587.1:p.Gln653Ter", "hgvsWellDefined": "XP_016870587.1:p.Gln654_Ser1163delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567919" }, { "coordinates": [ { "allele": "T", "end": 2303, "referenceAllele": "C", "start": 2302 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015100.1:c.1597C>T" ], "proteinEffect": { "hgvs": "XP_016870589.1:p.Gln533Ter", "hgvsWellDefined": "XP_016870589.1:p.Gln534_Ser1043delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567920" }, { "coordinates": [ { "allele": "T", "end": 2330, "referenceAllele": "C", "start": 2329 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015101.1:c.1594C>T" ], "proteinEffect": { "hgvs": "XP_016870590.1:p.Gln532Ter", "hgvsWellDefined": "XP_016870590.1:p.Gln533_Ser1042delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567921" }, { "@id": "http://reg.genome.network/allele/PA262222", "coordinates": [ { "allele": "T", "end": 2177, "referenceAllele": "C", "start": 2176 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.5:c.1960C>T" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Gln654Ter", "hgvsWellDefined": "NP_000359.1:p.Gln655_Ser1164delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674813", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.1960C>T" }, "RefSeq": { "hgvs": "NM_000368.5:c.1960C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Gln654Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Gln654Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825918257", "coordinates": [ { "allele": "T", "end": 2174, "referenceAllele": "C", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.2:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Gln653Ter", "hgvsWellDefined": "NP_001155898.1:p.Gln654_Ser1163delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678218" }, { "@id": "http://reg.genome.network/allele/PA2825956643", "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.2:c.1807C>T" ], "proteinEffect": { "hgvs": "NP_001155899.1:p.Gln603Ter", "hgvsWellDefined": "NP_001155899.1:p.Gln604_Ser1113delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678219" }, { "@id": "http://reg.genome.network/allele/PA2828060247", "coordinates": [ { "allele": "T", "end": 2073, "referenceAllele": "C", "start": 2072 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.2:c.1597C>T" ], "proteinEffect": { "hgvs": "NP_001349106.1:p.Gln533Ter", "hgvsWellDefined": "NP_001349106.1:p.Gln534_Ser1043delinsGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690502" } ], "type": "nucleotide" }