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}, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 2789, "referenceAllele": "G", "start": 2788 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.2721G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Trp907Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 1345, "referenceAllele": "G", "start": 1344 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.1345G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 2740, "referenceAllele": "G", "start": 2739 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.2688G>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 2742, "referenceAllele": "G", "start": 2741 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.2688G>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 2797, "referenceAllele": "G", "start": 2796 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.2688G>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 2806, "referenceAllele": "G", "start": 2805 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.2688G>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 2742, "referenceAllele": "G", "start": 2741 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.2688G>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 2750, "referenceAllele": "G", "start": 2749 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.2688G>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 2376, "referenceAllele": "G", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*1987G>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*1987G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 2658, "referenceAllele": "G", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.2577G>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Trp859Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 2789, "referenceAllele": "G", "start": 2788 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.2721G>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Trp907Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA263132", "coordinates": [ { "allele": "A", "end": 2794, "referenceAllele": "G", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.2688G>A", "LRG_487t1:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Trp896Ter", "hgvsWellDefined": "NP_000539.2:p.Trp896_Val1807delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825436852", "coordinates": [ { "allele": "A", "end": 2794, "referenceAllele": "G", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 2736, "referenceAllele": "G", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.2577G>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Trp859Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 2736, "referenceAllele": "G", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.2577G>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Trp859Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA263132", "coordinates": [ { "allele": "A", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Trp896Ter", "hgvsWellDefined": "NP_000539.2:p.Trp896_Val1807delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825436852", "coordinates": [ { "allele": "A", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Trp896Ter", "hgvsWellDefined": "NP_001070651.1:p.Trp896_Val1740delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825574869", "coordinates": [ { "allele": "A", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Trp896Ter", "hgvsWellDefined": "NP_001107854.1:p.Trp896_Val1784delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827002822", "coordinates": [ { "allele": "A", "end": 2777, "referenceAllele": "G", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.2577G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Trp859Ter", "hgvsWellDefined": "NP_001305756.1:p.Trp859_Val1704delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827011532", "coordinates": [ { "allele": "A", "end": 2721, "referenceAllele": "G", "start": 2720 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.2541G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Trp847Ter", "hgvsWellDefined": "NP_001305758.1:p.Trp847_Val1692delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827013928", "coordinates": [ { "allele": "A", "end": 2514, "referenceAllele": "G", "start": 2513 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.2088G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Trp696Ter", "hgvsWellDefined": "NP_001305760.1:p.Trp696_Val1563delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023983", "coordinates": [ { "allele": "A", "end": 2789, "referenceAllele": "G", "start": 2788 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.2721G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Trp907Ter", "hgvsWellDefined": "NP_001305761.1:p.Trp907_Val1751delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828092627", "coordinates": [ { "allele": "A", "end": 2888, "referenceAllele": "G", "start": 2887 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Trp896Ter", "hgvsWellDefined": "NP_001350457.1:p.Trp896_Val1741delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829977324", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 2868, "referenceAllele": "G", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.2850G>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Trp950Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 2868, "referenceAllele": "G", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.2850G>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Trp950Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 2775, "referenceAllele": "G", "start": 2774 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.2688G>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA263132", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Trp896Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2688G>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.2688G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Trp896Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Trp896Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828412741", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Trp896Ter", "hgvsWellDefined": "NP_001357333.1:p.Trp896_Val1763delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828418877", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Trp896Ter", "hgvsWellDefined": "NP_001357334.1:p.Trp896_Val1760delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825436852", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Trp896Ter", "hgvsWellDefined": "NP_001070651.1:p.Trp896_Val1740delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825574869", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Trp896Ter", "hgvsWellDefined": "NP_001107854.1:p.Trp896_Val1784delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827002822", "coordinates": [ { "allele": "A", "end": 2687, "referenceAllele": "G", "start": 2686 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.2577G>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Trp859Ter", "hgvsWellDefined": "NP_001305756.1:p.Trp859_Val1704delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827011532", "coordinates": [ { "allele": "A", "end": 2631, "referenceAllele": "G", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.2541G>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Trp847Ter", "hgvsWellDefined": "NP_001305758.1:p.Trp847_Val1692delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827013928", "coordinates": [ { "allele": "A", "end": 2424, "referenceAllele": "G", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.2088G>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Trp696Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023983", "coordinates": [ { "allele": "A", "end": 2789, "referenceAllele": "G", "start": 2788 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.2721G>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Trp907Ter", "hgvsWellDefined": "NP_001305761.1:p.Trp907_Val1751delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828092627", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Trp896Ter", "hgvsWellDefined": "NP_001350457.1:p.Trp896_Val1741delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829977324", "coordinates": [ { "allele": "A", "end": 2798, "referenceAllele": "G", "start": 2797 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.2688G>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Trp896Ter", "hgvsWellDefined": "NP_066399.2:p.Trp896_Val1764delinsPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }