{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA017308", "communityStandardTitle": [ "NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59318[alleleid]", "alleleId": 59318, "preferredName": "NM_000548.5(TSC2):c.2370C>G (p.Tyr790Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50156", "RCV": [ "RCV000043424", "RCV001852907", "RCV002453343" ], "variationId": 50156 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2124215C>G?assembly=hg19", "id": "chr16:g.2124215C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2074214C>G?assembly=hg38", "id": "chr16:g.2074214C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45517232", "rs": 45517232 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "G", "end": 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"transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 2399, "referenceAllele": "C", "start": 2398 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*917C>G" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*917C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "G", "end": 2531, "referenceAllele": "C", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.2415C>G" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Tyr805Ter", "hgvsWellDefined": 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"ENST00000646464.2:c.*2015C>G" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*2015C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2370C>G" }, "RefSeq": { "hgvs": "NM_000548.5:c.2370C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Tyr790Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Tyr790Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2445, "referenceAllele": "C", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Tyr790Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Tyr790Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "G", "end": 548, "referenceAllele": "C", "start": 547 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000563346.2:n.548C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS760393" }, { "coordinates": [ { "allele": "G", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.2403C>G" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Tyr801Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Tyr801_Val1751delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "G", "end": 1027, "referenceAllele": "C", "start": 1026 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.1027C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "G", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000495099.1:p.Tyr790_Val1760delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "G", "end": 2424, "referenceAllele": "C", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000493846.1:p.Tyr790_Val1741delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "G", "end": 2479, "referenceAllele": "C", "start": 2478 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000494514.1:p.Tyr790_Val1763delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "G", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000494747.1:p.Tyr790_Val1738delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "G", "end": 2669, "referenceAllele": "C", "start": 2668 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*1872C>G" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*1872C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "G", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000495927.1:p.Tyr790_Val1782delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "G", "end": 2424, "referenceAllele": "C", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000496262.1:p.Tyr790_Val1764delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "G", "end": 2432, "referenceAllele": "C", "start": 2431 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000496611.1:p.Tyr790_Val1769delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValSerGlyGlyGlySerArgArgGluLeuValGlyGlnAlaGlnValProProAspSerGluLeuThrProCysLeuArgProGlnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "G", "end": 2470, "referenceAllele": "C", "start": 2469 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000496317.1:p.Tyr790_Val1739delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "G", "end": 2363, "referenceAllele": "C", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.2363C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "G", "end": 1362, "referenceAllele": "C", "start": 1361 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644847.1:n.1362C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768031" }, { "coordinates": [ { "allele": "G", "end": 652, "referenceAllele": "C", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.652C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "G", "end": 650, "referenceAllele": "C", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645552.1:n.650C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768423" }, { "coordinates": [ { "allele": "G", "end": 2456, "referenceAllele": "C", "start": 2455 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "G", "end": 1383, "referenceAllele": "C", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.1383C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "G", "end": 3000, "referenceAllele": "C", "start": 2999 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "G", "end": 2445, "referenceAllele": "C", "start": 2444 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000344383.4:p.Tyr790_Val1784delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "G", "end": 2318, "referenceAllele": "C", "start": 2317 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.2223C>G" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Tyr741Ter", "hgvsWellDefined": "ENSP00000371978.6:p.Tyr741_Val1692delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.2370C>G" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Tyr790Ter", "hgvsWellDefined": "ENSP00000384468.2:p.Tyr790_Val1740delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "G", "end": 2058, "referenceAllele": "C", "start": 2057 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*1669C>G" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*1669C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "G", "end": 2340, "referenceAllele": "C", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.2259C>G" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Tyr753Ter", "hgvsWellDefined": "ENSP00000399232.2:p.Tyr753_Val1704delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "G", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000463808.1:n.404C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS307765" }, { "coordinates": [ { "allele": "G", "end": 439, "referenceAllele": "C", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000563346.1:n.439C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS377360" }, { "coordinates": [ { "allele": "G", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.2403C>G" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Tyr801Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Tyr801_Val1751delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.2370C>G", "LRG_487t1:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825436533", "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001070651.1:p.Tyr790_Val1740delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825574519", "coordinates": [ { "allele": "G", "end": 2476, "referenceAllele": "C", "start": 2475 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001107854.1:p.Tyr790_Val1784delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Tyr790Ter", "hgvsWellDefined": "XP_005255586.2:p.Tyr790_Val1764delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Tyr790Ter", "hgvsWellDefined": "XP_005255588.2:p.Tyr790_Val1741delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "G", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.2259C>G" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Tyr753Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Tyr790Ter", "hgvsWellDefined": "XP_011520941.1:p.Tyr790_Val1782delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Tyr790Ter", "hgvsWellDefined": "XP_011520942.1:p.Tyr790_Val1781delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "G", "end": 2418, "referenceAllele": "C", "start": 2417 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.2259C>G" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Tyr753Ter", "hgvsWellDefined": "XP_011520943.1:p.Tyr753_Val1704delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "coordinates": [ { "allele": "G", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825436533", "coordinates": [ { "allele": "G", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001070651.1:p.Tyr790_Val1740delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825574519", "coordinates": [ { "allele": "G", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001107854.1:p.Tyr790_Val1784delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827002470", "coordinates": [ { "allele": "G", "end": 2459, "referenceAllele": "C", "start": 2458 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.2259C>G" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Tyr753Ter", "hgvsWellDefined": "NP_001305756.1:p.Tyr753_Val1704delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827011427", "coordinates": [ { "allele": "G", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.2223C>G" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Tyr741Ter", "hgvsWellDefined": "NP_001305758.1:p.Tyr741_Val1692delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827013578", "coordinates": [ { "allele": "G", "end": 2196, "referenceAllele": "C", "start": 2195 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.1770C>G" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Tyr590Ter", "hgvsWellDefined": "NP_001305760.1:p.Tyr590_Val1563delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023882", "coordinates": [ { "allele": "G", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.2403C>G" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Tyr801Ter", "hgvsWellDefined": "NP_001305761.1:p.Tyr801_Val1751delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828092278", "coordinates": [ { "allele": "G", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001350457.1:p.Tyr790_Val1741delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829976388", "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Tyr790Ter", "hgvsWellDefined": "NP_066399.2:p.Tyr790_Val1764delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Tyr790Ter", "hgvsWellDefined": "XP_005255588.2:p.Tyr790_Val1741delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "G", "end": 2550, "referenceAllele": "C", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.2532C>G" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Tyr844Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Tyr790Ter", "hgvsWellDefined": "XP_011520941.1:p.Tyr790_Val1782delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Tyr790Ter", "hgvsWellDefined": "XP_011520942.1:p.Tyr790_Val1781delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Tyr790Ter", "hgvsWellDefined": "XP_016879105.1:p.Tyr790_Val1763delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "G", "end": 2550, "referenceAllele": "C", "start": 2549 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.2532C>G" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Tyr844Ter", "hgvsWellDefined": "XP_016879106.1:p.Tyr844_Val1795delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "G", "end": 2544, "referenceAllele": "C", "start": 2543 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.1026C>G" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Tyr342Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "G", "end": 2457, "referenceAllele": "C", "start": 2456 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.2370C>G" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Tyr790Ter", "hgvsWellDefined": "XP_024306181.1:p.Tyr790_Val1769delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValSerGlyGlyGlySerArgArgGluLeuValGlyGlnAlaGlnValProProAspSerGluLeuThrProCysLeuArgProGlnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Tyr790Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2370C>G" }, "RefSeq": { "hgvs": "NM_000548.5:c.2370C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Tyr790Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Tyr790Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828412392", "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001357333.1:p.Tyr790_Val1763delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828418528", "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001357334.1:p.Tyr790_Val1760delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825436533", "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001070651.1:p.Tyr790_Val1740delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825574519", "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001107854.1:p.Tyr790_Val1784delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827002470", "coordinates": [ { "allele": "G", "end": 2369, "referenceAllele": "C", "start": 2368 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.2259C>G" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Tyr753Ter", "hgvsWellDefined": "NP_001305756.1:p.Tyr753_Val1704delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827011427", "coordinates": [ { "allele": "G", "end": 2313, "referenceAllele": "C", "start": 2312 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.2223C>G" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Tyr741Ter", "hgvsWellDefined": "NP_001305758.1:p.Tyr741_Val1692delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827013578", "coordinates": [ { "allele": "G", "end": 2106, "referenceAllele": "C", "start": 2105 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.1770C>G" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Tyr590Ter", "hgvsWellDefined": "NP_001305760.1:p.Tyr590_Val1563delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023882", "coordinates": [ { "allele": "G", "end": 2471, "referenceAllele": "C", "start": 2470 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.2403C>G" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Tyr801Ter", "hgvsWellDefined": "NP_001305761.1:p.Tyr801_Val1751delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828092278", "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Tyr790Ter", "hgvsWellDefined": "NP_001350457.1:p.Tyr790_Val1741delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829976388", "coordinates": [ { "allele": "G", "end": 2480, "referenceAllele": "C", "start": 2479 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.2370C>G" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Tyr790Ter", "hgvsWellDefined": "NP_066399.2:p.Tyr790_Val1764delinsCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }