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}, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "T", "end": 429, "referenceAllele": "C", "start": 428 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000563346.2:n.429C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760393" }, { "coordinates": [ { "allele": "T", "end": 2352, "referenceAllele": "C", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.2284C>T" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Arg762Ter", "hgvsWellDefined": 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"ENSP00000371978.6:p.Arg702_Val1692delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.2251C>T" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Arg751Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "T", "end": 1939, "referenceAllele": "C", "start": 1938 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*1550C>T" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*1550C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "T", "end": 2221, "referenceAllele": "C", "start": 2220 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.2140C>T" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Arg714Ter", "hgvsWellDefined": "ENSP00000399232.2:p.Arg714_Val1704delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "T", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000463808.1:n.285C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS307765" }, { "coordinates": [ { "allele": "T", "end": 320, "referenceAllele": "C", "start": 319 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000563346.1:n.320C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS377360" }, { "coordinates": [ { "allele": "T", "end": 2352, "referenceAllele": "C", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.2284C>T" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Arg762Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Arg762_Val1751delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.2251C>T", "LRG_487t1:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825436407", "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg751Ter", "hgvsWellDefined": "NP_001070651.1:p.Arg751_Val1740delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Arg751Ter", "hgvsWellDefined": "XP_005255588.2:p.Arg751_Val1741delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "T", "end": 2299, "referenceAllele": "C", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.2140C>T" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Arg714Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "T", "end": 2299, "referenceAllele": "C", "start": 2298 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.2140C>T" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Arg714Ter", "hgvsWellDefined": "XP_011520943.1:p.Arg714_Val1704delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825436407", "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg751Ter", "hgvsWellDefined": "NP_001070651.1:p.Arg751_Val1740delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "coordinates": [ { "allele": "T", "end": 2451, "referenceAllele": "C", "start": 2450 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827002335", "coordinates": [ { "allele": "T", "end": 2340, "referenceAllele": "C", "start": 2339 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.2140C>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Arg714Ter", "hgvsWellDefined": "NP_001305756.1:p.Arg714_Val1704delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827007777", "coordinates": [ { "allele": "T", "end": 2284, "referenceAllele": "C", "start": 2283 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.2104C>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Arg702Ter", "hgvsWellDefined": "NP_001305758.1:p.Arg702_Val1692delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "coordinates": [ { "allele": "T", "end": 2077, "referenceAllele": "C", "start": 2076 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.1651C>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Arg551Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023845", "coordinates": [ { "allele": "T", "end": 2352, "referenceAllele": "C", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.2284C>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Arg762Ter", "hgvsWellDefined": "NP_001305761.1:p.Arg762_Val1751delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Arg751Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "T", "end": 2431, "referenceAllele": "C", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.2413C>T" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Arg805Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "T", "end": 2431, "referenceAllele": "C", "start": 2430 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.2413C>T" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Arg805Ter", "hgvsWellDefined": "XP_016879106.1:p.Arg805_Val1795delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "T", "end": 2425, "referenceAllele": "C", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.907C>T" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Arg303Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "C", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.2251C>T" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2251C>T" }, "RefSeq": { "hgvs": "NM_000548.5:c.2251C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Arg751Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Arg751Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825436407", "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Arg751Ter", "hgvsWellDefined": "NP_001070651.1:p.Arg751_Val1740delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827002335", "coordinates": [ { "allele": "T", "end": 2250, "referenceAllele": "C", "start": 2249 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.2140C>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Arg714Ter", "hgvsWellDefined": "NP_001305756.1:p.Arg714_Val1704delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827007777", "coordinates": [ { "allele": "T", "end": 2194, "referenceAllele": "C", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.2104C>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Arg702Ter", "hgvsWellDefined": "NP_001305758.1:p.Arg702_Val1692delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "coordinates": [ { "allele": "T", "end": 1987, "referenceAllele": "C", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.1651C>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Arg551Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023845", "coordinates": [ { "allele": "T", "end": 2352, "referenceAllele": "C", "start": 2351 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.2284C>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Arg762Ter", "hgvsWellDefined": "NP_001305761.1:p.Arg762_Val1751delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828092141", "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Arg751Ter", "hgvsWellDefined": "NP_001350457.1:p.Arg751_Val1741delinsGlyAlaProGluGlyPheSerArgThrAspLeuHisLeuAlaValValProValLeuThrAlaLeuIleSerTyrHisAsnTyrLeuAspLysThrLysGlnArgGluMetValTyrCysLeuGluGlnGlyLeuIleHisArgCysAlaSerGlnCysValValAlaLeuSerIleCysSerValGluMetProAspIleIleIleLysAlaLeuProValLeuValValLysLeuThrHisIleSerAlaThrAlaSerMetAlaValProLeuLeuGluPheLeuSerThrLeuAlaArgLeuProHisLeuTyrArgAsnPheAlaAlaGluGlnTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "coordinates": [ { "allele": "T", "end": 2361, "referenceAllele": "C", "start": 2360 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.2251C>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Arg751Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }