{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA017705", "communityStandardTitle": [ "NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=59242[alleleid]", "alleleId": 59242, "preferredName": "NM_000548.5(TSC2):c.2590C>T (p.Gln864Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/50080", "RCV": [ "RCV000043346", "RCV001211580", "RCV002247427" ], "variationId": 50080 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2125844C>T?assembly=hg19", "id": "chr16:g.2125844C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2075843C>T?assembly=hg38", "id": "chr16:g.2075843C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45517250", "rs": 45517250 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2075843, "referenceAllele": "C", "start": 2075842 } ], "hgvs": [ "NC_000016.10:g.2075843C>T", "CM000678.2:g.2075843C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2125844, "referenceAllele": "C", "start": 2125843 } ], "hgvs": [ "NC_000016.9:g.2125844C>T", "CM000678.1:g.2125844C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2065845, "referenceAllele": "C", "start": 2065844 } ], "hgvs": [ "NC_000016.8:g.2065845C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 31538, "referenceAllele": "C", "start": 31537 } ], "hgvs": [ "NG_005895.1:g.31538C>T", "LRG_487:g.31538C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2619, "referenceAllele": "C", "start": 2618 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*1137C>T" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*1137C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "T", "end": 2751, "referenceAllele": "C", "start": 2750 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.2635C>T" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Gln879Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "T", "end": 2661, "referenceAllele": "C", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "T", "end": 2682, "referenceAllele": "C", "start": 2681 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*2027C>T" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*2027C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "T", "end": 3982, "referenceAllele": "C", "start": 3981 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*3644C>T" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*3644C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Gln864Ter", "hgvsWellDefined": "ENSP00000219476.3:p.Gln864_Val1807delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2590C>T" }, "RefSeq": { "hgvs": "NM_000548.5:c.2590C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Gln864Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Gln864Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2665, "referenceAllele": "C", "start": 2664 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Gln864Ter", "hgvsWellDefined": "ENSP00000344383.4:p.Gln864_Val1784delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "T", "end": 2696, "referenceAllele": "C", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "C", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.2623C>T" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Gln875Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.1247C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "T", "end": 2642, "referenceAllele": "C", "start": 2641 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "T", "end": 2644, "referenceAllele": "C", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "T", "end": 2708, "referenceAllele": "C", "start": 2707 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "T", "end": 2889, "referenceAllele": "C", "start": 2888 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*2092C>T" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*2092C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "T", "end": 2708, "referenceAllele": "C", "start": 2707 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "T", "end": 2644, "referenceAllele": "C", "start": 2643 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "T", "end": 2652, "referenceAllele": "C", "start": 2651 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "T", "end": 2690, "referenceAllele": "C", "start": 2689 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "T", "end": 2583, "referenceAllele": "C", "start": 2582 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.2583C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.872C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "T", "end": 2676, "referenceAllele": "C", "start": 2675 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "T", "end": 1603, "referenceAllele": "C", "start": 1602 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.1603C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "T", "end": 3220, "referenceAllele": "C", "start": 3219 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Gln864Ter", "hgvsWellDefined": "ENSP00000219476.3:p.Gln864_Val1807delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "T", "end": 2665, "referenceAllele": "C", "start": 2664 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Gln864Ter", "hgvsWellDefined": "ENSP00000344383.4:p.Gln864_Val1784delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "T", "end": 2538, "referenceAllele": "C", "start": 2537 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.2443C>T" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Gln815Ter", "hgvsWellDefined": "ENSP00000371978.6:p.Gln815_Val1692delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "T", "end": 2696, "referenceAllele": "C", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.2590C>T" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Gln864Ter", "hgvsWellDefined": "ENSP00000384468.2:p.Gln864_Val1740delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "T", "end": 2278, "referenceAllele": "C", "start": 2277 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*1889C>T" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*1889C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "T", "end": 2560, "referenceAllele": "C", "start": 2559 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.2479C>T" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Gln827Ter", "hgvsWellDefined": "ENSP00000399232.2:p.Gln827_Val1704delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "C", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.2623C>T" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Gln875Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Gln875_Val1751delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA263121", "coordinates": [ { "allele": "T", "end": 2696, "referenceAllele": "C", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.2590C>T", "LRG_487t1:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gln864Ter", "hgvsWellDefined": "NP_000539.2:p.Gln864_Val1807delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825436757", "coordinates": [ { "allele": "T", "end": 2696, "referenceAllele": "C", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gln864Ter", "hgvsWellDefined": "NP_001070651.1:p.Gln864_Val1740delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825574764", "coordinates": [ { "allele": "T", "end": 2696, "referenceAllele": "C", "start": 2695 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gln864Ter", "hgvsWellDefined": "NP_001107854.1:p.Gln864_Val1784delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Gln864Ter", "hgvsWellDefined": "XP_005255586.2:p.Gln864_Val1764delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Gln864Ter", "hgvsWellDefined": "XP_005255588.2:p.Gln864_Val1741delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520938.1:p.Gln864_Val1825delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520939.1:p.Gln864_Val1824delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "T", "end": 2638, "referenceAllele": "C", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.2479C>T" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Gln827Ter", "hgvsWellDefined": "XP_011520940.1:p.Gln827_Val1788delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520941.1:p.Gln864_Val1782delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520942.1:p.Gln864_Val1781delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "T", "end": 2638, "referenceAllele": "C", "start": 2637 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.2479C>T" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Gln827Ter", "hgvsWellDefined": "XP_011520943.1:p.Gln827_Val1704delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA263121", "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gln864Ter", "hgvsWellDefined": "NP_000539.2:p.Gln864_Val1807delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825436757", "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gln864Ter", "hgvsWellDefined": "NP_001070651.1:p.Gln864_Val1740delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825574764", "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gln864Ter", "hgvsWellDefined": "NP_001107854.1:p.Gln864_Val1784delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827002719", "coordinates": [ { "allele": "T", "end": 2679, "referenceAllele": "C", "start": 2678 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.2479C>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Gln827Ter", "hgvsWellDefined": "NP_001305756.1:p.Gln827_Val1704delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827008084", "coordinates": [ { "allele": "T", "end": 2623, "referenceAllele": "C", "start": 2622 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.2443C>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Gln815Ter", "hgvsWellDefined": "NP_001305758.1:p.Gln815_Val1692delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827013824", "coordinates": [ { "allele": "T", "end": 2416, "referenceAllele": "C", "start": 2415 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.1990C>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Gln664Ter", "hgvsWellDefined": "NP_001305760.1:p.Gln664_Val1563delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023956", "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "C", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.2623C>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Gln875Ter", "hgvsWellDefined": "NP_001305761.1:p.Gln875_Val1751delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828092527", "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Gln864Ter", "hgvsWellDefined": "NP_001350457.1:p.Gln864_Val1741delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829977073", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Gln864Ter", "hgvsWellDefined": "NP_066399.2:p.Gln864_Val1764delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Gln864Ter", "hgvsWellDefined": "XP_005255588.2:p.Gln864_Val1741delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520938.1:p.Gln864_Val1825delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520939.1:p.Gln864_Val1824delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "T", "end": 2770, "referenceAllele": "C", "start": 2769 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.2752C>T" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Gln918Ter", "hgvsWellDefined": "XP_011520940.2:p.Gln918_Val1879delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520941.1:p.Gln864_Val1782delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Gln864Ter", "hgvsWellDefined": "XP_011520942.1:p.Gln864_Val1781delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Gln864Ter", "hgvsWellDefined": "XP_016879104.1:p.Gln864_Val1806delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Gln864Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "T", "end": 2770, "referenceAllele": "C", "start": 2769 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.2752C>T" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Gln918Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "T", "end": 2764, "referenceAllele": "C", "start": 2763 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.1246C>T" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Gln416Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "T", "end": 2677, "referenceAllele": "C", "start": 2676 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.2590C>T" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Gln864Ter", "hgvsWellDefined": "XP_024306181.1:p.Gln864_Val1769delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValSerGlyGlyGlySerArgArgGluLeuValGlyGlnAlaGlnValProProAspSerGluLeuThrProCysLeuArgProGlnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA263121", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gln864Ter", "hgvsWellDefined": "NP_000539.2:p.Gln864_Val1807delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2590C>T" }, "RefSeq": { "hgvs": "NM_000548.5:c.2590C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Gln864Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Gln864Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828412641", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Gln864Ter", "hgvsWellDefined": "NP_001357333.1:p.Gln864_Val1763delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828418778", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Gln864Ter", "hgvsWellDefined": "NP_001357334.1:p.Gln864_Val1760delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825436757", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gln864Ter", "hgvsWellDefined": "NP_001070651.1:p.Gln864_Val1740delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825574764", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gln864Ter", "hgvsWellDefined": "NP_001107854.1:p.Gln864_Val1784delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827002719", "coordinates": [ { "allele": "T", "end": 2589, "referenceAllele": "C", "start": 2588 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.2479C>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Gln827Ter", "hgvsWellDefined": "NP_001305756.1:p.Gln827_Val1704delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827008084", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.2443C>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Gln815Ter", "hgvsWellDefined": "NP_001305758.1:p.Gln815_Val1692delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827013824", "coordinates": [ { "allele": "T", "end": 2326, "referenceAllele": "C", "start": 2325 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.1990C>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Gln664Ter", "hgvsWellDefined": "NP_001305760.1:p.Gln664_Val1563delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023956", "coordinates": [ { "allele": "T", "end": 2691, "referenceAllele": "C", "start": 2690 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.2623C>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Gln875Ter", "hgvsWellDefined": "NP_001305761.1:p.Gln875_Val1751delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828092527", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Gln864Ter", "hgvsWellDefined": "NP_001350457.1:p.Gln864_Val1741delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829977073", "coordinates": [ { "allele": "T", "end": 2700, "referenceAllele": "C", "start": 2699 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.2590C>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Gln864Ter", "hgvsWellDefined": "NP_066399.2:p.Gln864_Val1764delinsTyrAlaSerValPheAlaIleSerLeuProTyrThrAsnProSerLysPheAsnGlnTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }