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"end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000647180.1:n.1191G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS769277" }, { "coordinates": [ { "allele": "T", "end": 4708, "referenceAllele": "G", "start": 4707 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.4078G>T" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Glu1360Ter", "hgvsWellDefined": "ENSP00000219476.3:p.Glu1360_Val1807delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" 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"ENSP00000344383.4:p.Glu1337_Val1784delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "T", "end": 3828, "referenceAllele": "G", "start": 3827 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.3733G>T" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Glu1245Ter", "hgvsWellDefined": "ENSP00000371978.6:p.Glu1245_Val1692delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "T", "end": 3983, "referenceAllele": "G", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.3877G>T" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Glu1293Ter", "hgvsWellDefined": "ENSP00000384468.2:p.Glu1293_Val1740delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "T", "end": 3634, "referenceAllele": "G", "start": 3633 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*3245G>T" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*3245G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "T", "end": 3850, "referenceAllele": "G", "start": 3849 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.3769G>T" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Glu1257Ter", "hgvsWellDefined": "ENSP00000399232.2:p.Glu1257_Val1704delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "T", "end": 1836, "referenceAllele": "G", "start": 1835 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.1836G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "T", "end": 3978, "referenceAllele": "G", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.3910G>T" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Glu1304Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Glu1304_Val1751delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "coordinates": [ { "allele": "T", "end": 260, "referenceAllele": "G", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569110.1:c.260G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS246736" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "G", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000569930.1:n.1193G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS381794" }, { "@id": "http://reg.genome.network/allele/PA264492", "coordinates": [ { "allele": "T", "end": 4184, "referenceAllele": "G", "start": 4183 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.4078G>T", "LRG_487t1:c.4078G>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Glu1360Ter", "hgvsWellDefined": "NP_000539.2:p.Glu1360_Val1807delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825438173", "coordinates": [ { "allele": "T", "end": 3983, "referenceAllele": "G", "start": 3982 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.3877G>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Glu1293Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA264492", "coordinates": [ { "allele": "T", "end": 4278, "referenceAllele": "G", "start": 4277 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.4078G>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Glu1360Ter", "hgvsWellDefined": "NP_000539.2:p.Glu1360_Val1807delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825438173", "coordinates": [ { "allele": "T", "end": 4077, "referenceAllele": "G", "start": 4076 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.3877G>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Glu1293Ter", "hgvsWellDefined": "NP_001070651.1:p.Glu1293_Val1740delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825576189", "coordinates": [ { "allele": "T", "end": 4209, "referenceAllele": "G", "start": 4208 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.4009G>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Glu1337Ter", "hgvsWellDefined": "NP_001107854.1:p.Glu1337_Val1784delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827004098", "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "G", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.3769G>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Glu1257Ter", "hgvsWellDefined": "NP_001305756.1:p.Glu1257_Val1704delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827009219", "coordinates": [ { "allele": "T", "end": 3913, "referenceAllele": "G", "start": 3912 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.3733G>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Glu1245Ter", "hgvsWellDefined": "NP_001305758.1:p.Glu1245_Val1692delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827015043", "coordinates": [ { "allele": "T", "end": 3772, "referenceAllele": "G", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.3346G>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Glu1116Ter", "hgvsWellDefined": "NP_001305760.1:p.Glu1116_Val1563delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA2827019556", "coordinates": [ { "allele": "T", "end": 3978, "referenceAllele": "G", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.3910G>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Glu1304Ter", "hgvsWellDefined": "NP_001305761.1:p.Glu1304_Val1751delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828093970", "coordinates": [ { "allele": "T", "end": 4080, "referenceAllele": "G", "start": 4079 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.3880G>T" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Glu1294Ter", "hgvsWellDefined": "NP_001350457.1:p.Glu1294_Val1741delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829980351", "coordinates": [ { "allele": "T", "end": 4059, "referenceAllele": "G", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.3949G>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Glu1317Ter", "hgvsWellDefined": "NP_066399.2:p.Glu1317_Val1764delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "T", "end": 3967, "referenceAllele": "G", "start": 3966 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.3880G>T" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Glu1294Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "T", "end": 4090, "referenceAllele": "G", "start": 4089 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.4003G>T" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Glu1335Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "T", "end": 4087, "referenceAllele": "G", "start": 4086 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.4000G>T" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Glu1334Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "T", "end": 4162, "referenceAllele": "G", "start": 4161 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.4075G>T" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Glu1359Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "T", "end": 4033, "referenceAllele": "G", "start": 4032 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.3946G>T" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Glu1316Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "T", "end": 4060, "referenceAllele": "G", "start": 4059 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.4042G>T" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Glu1348Ter", "hgvsWellDefined": "XP_016879106.1:p.Glu1348_Val1795delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "T", "end": 4306, "referenceAllele": "G", "start": 4305 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.2788G>T" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Glu930Ter", "hgvsWellDefined": "XP_016879107.1:p.Glu930_Val1377delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "T", "end": 3964, "referenceAllele": "G", "start": 3963 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3877G>T" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Glu1293Ter", "hgvsWellDefined": "XP_024306181.1:p.Glu1293_Val1769delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValSerGlyGlyGlySerArgArgGluLeuValGlyGlnAlaGlnValProProAspSerGluLeuThrProCysLeuArgProGlnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA264492", "coordinates": [ { "allele": "T", "end": 4188, "referenceAllele": "G", "start": 4187 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.4078G>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Glu1360Ter", "hgvsWellDefined": "NP_000539.2:p.Glu1360_Val1807delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.4078G>T" }, "RefSeq": { "hgvs": "NM_000548.5:c.4078G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Glu1360Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Glu1360Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828414143", "coordinates": [ { "allele": "T", "end": 4056, "referenceAllele": "G", "start": 4055 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.3946G>T" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Glu1316Ter", "hgvsWellDefined": "NP_001357333.1:p.Glu1316_Val1763delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828420282", "coordinates": [ { "allele": "T", "end": 4059, "referenceAllele": "G", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.3949G>T" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Glu1317Ter", "hgvsWellDefined": "NP_001357334.1:p.Glu1317_Val1760delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825438173", "coordinates": [ { "allele": "T", "end": 3987, "referenceAllele": "G", "start": 3986 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3877G>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Glu1293Ter", "hgvsWellDefined": "NP_001070651.1:p.Glu1293_Val1740delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825576189", "coordinates": [ { "allele": "T", "end": 4119, "referenceAllele": "G", "start": 4118 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.4009G>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Glu1337Ter", "hgvsWellDefined": "NP_001107854.1:p.Glu1337_Val1784delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827004098", "coordinates": [ { "allele": "T", "end": 3879, "referenceAllele": "G", "start": 3878 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.3769G>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Glu1257Ter", "hgvsWellDefined": "NP_001305756.1:p.Glu1257_Val1704delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827009219", "coordinates": [ { "allele": "T", "end": 3823, "referenceAllele": "G", "start": 3822 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.3733G>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Glu1245Ter", "hgvsWellDefined": "NP_001305758.1:p.Glu1245_Val1692delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827015043", "coordinates": [ { "allele": "T", "end": 3682, "referenceAllele": "G", "start": 3681 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.3346G>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Glu1116Ter", "hgvsWellDefined": "NP_001305760.1:p.Glu1116_Val1563delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827019556", "coordinates": [ { "allele": "T", "end": 3978, "referenceAllele": "G", "start": 3977 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3910G>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Glu1304Ter", "hgvsWellDefined": "NP_001305761.1:p.Glu1304_Val1751delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828093970", "coordinates": [ { "allele": "T", "end": 3990, "referenceAllele": "G", "start": 3989 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3880G>T" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Glu1294Ter", "hgvsWellDefined": "NP_001350457.1:p.Glu1294_Val1741delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829980351", "coordinates": [ { "allele": "T", "end": 4059, "referenceAllele": "G", "start": 4058 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.3949G>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Glu1317Ter", "hgvsWellDefined": "NP_066399.2:p.Glu1317_Val1764delinsArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }