{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA017805", "communityStandardTitle": [ "NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5010415", "active": true, "id": "COSM5010415" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58742[alleleid]", "alleleId": 58742, "preferredName": "NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49580", "RCV": [ "RCV001252981", "RCV002255124", "RCV000042841" ], "variationId": 49580 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2126076C>T?assembly=hg19", "id": "chr16:g.2126076C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2076075C>T?assembly=hg38", "id": "chr16:g.2076075C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45476100", "rs": 45476100 } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2076075, "referenceAllele": "C", "start": 2076074 } ], "hgvs": [ "NC_000016.10:g.2076075C>T", "CM000678.2:g.2076075C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2126076, "referenceAllele": "C", "start": 2126075 } ], "hgvs": [ "NC_000016.9:g.2126076C>T", "CM000678.1:g.2126076C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 2066077, "referenceAllele": "C", "start": 2066076 } ], "hgvs": [ "NC_000016.8:g.2066077C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 31770, "referenceAllele": "C", "start": 31769 } ], "hgvs": [ "NG_005895.1:g.31770C>T", "LRG_487:g.31770C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2676, "referenceAllele": "C", "start": 2675 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*1194C>T" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*1194C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "T", "end": 2808, "referenceAllele": "C", "start": 2807 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.2692C>T" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Gln898Ter", "hgvsWellDefined": "ENSP00000495146.2:p.Gln898_Val1756delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "T", "end": 2718, "referenceAllele": "C", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "T", "end": 2739, "referenceAllele": "C", "start": 2738 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*2084C>T" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*2084C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "T", "end": 4039, "referenceAllele": "C", "start": 4038 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*3701C>T" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*3701C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Gln883Ter", "hgvsWellDefined": "ENSP00000219476.3:p.Gln883_Val1807delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2647C>T" }, "RefSeq": { "hgvs": "NM_000548.5:c.2647C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Gln883Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Gln883Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2722, "referenceAllele": "C", "start": 2721 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Gln883Ter", "hgvsWellDefined": "ENSP00000344383.4:p.Gln883_Val1784delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Gln883Ter", "hgvsWellDefined": "ENSP00000384468.2:p.Gln883_Val1740delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "T", "end": 2748, "referenceAllele": "C", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.2680C>T" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Gln894Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Gln894_Val1751delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.1304C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Gln883Ter", "hgvsWellDefined": "ENSP00000495099.1:p.Gln883_Val1760delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "T", "end": 2756, "referenceAllele": "C", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "T", "end": 2765, "referenceAllele": "C", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "T", "end": 2946, "referenceAllele": "C", "start": 2945 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643298.1:c.*2149C>T" ], "proteinEffect": { "hgvs": "ENSP00000494393.1:n.*2149C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767200" }, { "coordinates": [ { "allele": "T", "end": 2765, "referenceAllele": "C", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "T", "end": 2709, "referenceAllele": "C", "start": 2708 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "T", "end": 2747, "referenceAllele": "C", "start": 2746 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767767" }, { "coordinates": [ { "allele": "T", "end": 2640, "referenceAllele": "C", "start": 2639 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644399.1:c.2640C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767800" }, { "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000645024.1:n.929C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768127" }, { "coordinates": [ { "allele": "T", "end": 2733, "referenceAllele": "C", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646388.1:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000495921.1:p.Gln883Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS768845" }, { "coordinates": [ { "allele": "T", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646634.1:n.1660C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768983" }, { "coordinates": [ { "allele": "T", "end": 3277, "referenceAllele": "C", "start": 3276 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.7:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Gln883Ter", "hgvsWellDefined": "ENSP00000219476.3:p.Gln883_Val1807delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247369" }, { "coordinates": [ { "allele": "T", "end": 2722, "referenceAllele": "C", "start": 2721 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.8:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Gln883Ter", "hgvsWellDefined": "ENSP00000344383.4:p.Gln883_Val1784delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246737" }, { "coordinates": [ { "allele": "T", "end": 2595, "referenceAllele": "C", "start": 2594 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000382538.10:c.2500C>T" ], "proteinEffect": { "hgvs": "ENSP00000371978.6:p.Gln834Ter", "hgvsWellDefined": "ENSP00000371978.6:p.Gln834_Val1692delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247352" }, { "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.6:c.2647C>T" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Gln883Ter", "hgvsWellDefined": "ENSP00000384468.2:p.Gln883_Val1740delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "T", "end": 2335, "referenceAllele": "C", "start": 2334 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*1946C>T" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*1946C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.2536C>T" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Gln846Ter", "hgvsWellDefined": "ENSP00000399232.2:p.Gln846_Val1704delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "T", "end": 2748, "referenceAllele": "C", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.2680C>T" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Gln894Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Gln894_Val1751delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA262777", "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.2647C>T", "LRG_487t1:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gln883Ter", "hgvsWellDefined": "NP_000539.2:p.Gln883_Val1807delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825436818", "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gln883Ter", "hgvsWellDefined": "NP_001070651.1:p.Gln883_Val1740delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825574827", "coordinates": [ { "allele": "T", "end": 2753, "referenceAllele": "C", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gln883Ter", "hgvsWellDefined": "NP_001107854.1:p.Gln883_Val1784delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Gln883Ter", "hgvsWellDefined": "XP_005255586.2:p.Gln883_Val1764delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Gln883Ter", "hgvsWellDefined": "XP_005255588.2:p.Gln883_Val1741delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520938.1:p.Gln883_Val1825delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520939.1:p.Gln883_Val1824delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "T", "end": 2695, "referenceAllele": "C", "start": 2694 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.2536C>T" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Gln846Ter", "hgvsWellDefined": "XP_011520940.1:p.Gln846_Val1788delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520941.1:p.Gln883_Val1782delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520942.1:p.Gln883_Val1781delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "T", "end": 2695, "referenceAllele": "C", "start": 2694 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.2536C>T" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Gln846Ter", "hgvsWellDefined": "XP_011520943.1:p.Gln846_Val1704delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA262777", "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gln883Ter", "hgvsWellDefined": "NP_000539.2:p.Gln883_Val1807delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825436818", "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gln883Ter", "hgvsWellDefined": "NP_001070651.1:p.Gln883_Val1740delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825574827", "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gln883Ter", "hgvsWellDefined": "NP_001107854.1:p.Gln883_Val1784delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827002781", "coordinates": [ { "allele": "T", "end": 2736, "referenceAllele": "C", "start": 2735 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.2536C>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Gln846Ter", "hgvsWellDefined": "NP_001305756.1:p.Gln846_Val1704delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827008133", "coordinates": [ { "allele": "T", "end": 2680, "referenceAllele": "C", "start": 2679 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.2500C>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Gln834Ter", "hgvsWellDefined": "NP_001305758.1:p.Gln834_Val1692delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA2827013888", "coordinates": [ { "allele": "T", "end": 2473, "referenceAllele": "C", "start": 2472 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.2047C>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Gln683Ter", "hgvsWellDefined": "NP_001305760.1:p.Gln683_Val1563delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA916023967", "coordinates": [ { "allele": "T", "end": 2748, "referenceAllele": "C", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.2680C>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Gln894Ter", "hgvsWellDefined": "NP_001305761.1:p.Gln894_Val1751delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828092588", "coordinates": [ { "allele": "T", "end": 2847, "referenceAllele": "C", "start": 2846 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Gln883Ter", "hgvsWellDefined": "NP_001350457.1:p.Gln883_Val1741delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829977227", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Gln883Ter", "hgvsWellDefined": "NP_066399.2:p.Gln883_Val1764delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Gln883Ter", "hgvsWellDefined": "XP_005255588.2:p.Gln883_Val1741delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520938.1:p.Gln883_Val1825delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520939.1:p.Gln883_Val1824delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "T", "end": 2827, "referenceAllele": "C", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Gln937Ter", "hgvsWellDefined": "XP_011520940.2:p.Gln937_Val1879delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520941.1:p.Gln883_Val1782delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Gln883Ter", "hgvsWellDefined": "XP_011520942.1:p.Gln883_Val1781delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Gln883Ter", "hgvsWellDefined": "XP_016879104.1:p.Gln883_Val1806delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Gln883Ter", "hgvsWellDefined": "XP_016879105.1:p.Gln883_Val1763delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "T", "end": 2827, "referenceAllele": "C", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.2809C>T" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Gln937Ter", "hgvsWellDefined": "XP_016879106.1:p.Gln937_Val1795delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "T", "end": 2821, "referenceAllele": "C", "start": 2820 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.1303C>T" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Gln435Ter", "hgvsWellDefined": "XP_016879107.1:p.Gln435_Val1377delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "T", "end": 2734, "referenceAllele": "C", "start": 2733 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Gln883Ter", "hgvsWellDefined": "XP_024306181.1:p.Gln883_Val1769delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValSerGlyGlyGlySerArgArgGluLeuValGlyGlnAlaGlnValProProAspSerGluLeuThrProCysLeuArgProGlnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA262777", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Gln883Ter", "hgvsWellDefined": "NP_000539.2:p.Gln883_Val1807delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.2647C>T" }, "RefSeq": { "hgvs": "NM_000548.5:c.2647C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Gln883Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Gln883Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828412702", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Gln883Ter", "hgvsWellDefined": "NP_001357333.1:p.Gln883_Val1763delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828418837", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Gln883Ter", "hgvsWellDefined": "NP_001357334.1:p.Gln883_Val1760delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825436818", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Gln883Ter", "hgvsWellDefined": "NP_001070651.1:p.Gln883_Val1740delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825574827", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Gln883Ter", "hgvsWellDefined": "NP_001107854.1:p.Gln883_Val1784delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerLeuArgIleAlaArgProProLysGlnGlyLeuAsnAsnSerProProValLysGluPheLysGluSerSerAlaAlaGluAlaPheArgCysArgSerIleSerValSerGluHisValValArgSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827002781", "coordinates": [ { "allele": "T", "end": 2646, "referenceAllele": "C", "start": 2645 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.2536C>T" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Gln846Ter", "hgvsWellDefined": "NP_001305756.1:p.Gln846_Val1704delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827008133", "coordinates": [ { "allele": "T", "end": 2590, "referenceAllele": "C", "start": 2589 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.2500C>T" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Gln834Ter", "hgvsWellDefined": "NP_001305758.1:p.Gln834_Val1692delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA2827013888", "coordinates": [ { "allele": "T", "end": 2383, "referenceAllele": "C", "start": 2382 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.2047C>T" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Gln683Ter", "hgvsWellDefined": "NP_001305760.1:p.Gln683_Val1563delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA916023967", "coordinates": [ { "allele": "T", "end": 2748, "referenceAllele": "C", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.2680C>T" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Gln894Ter", "hgvsWellDefined": "NP_001305761.1:p.Gln894_Val1751delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828092588", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Gln883Ter", "hgvsWellDefined": "NP_001350457.1:p.Gln883_Val1741delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829977227", "coordinates": [ { "allele": "T", "end": 2757, "referenceAllele": "C", "start": 2756 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.2647C>T" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Gln883Ter", "hgvsWellDefined": "NP_066399.2:p.Gln883_Val1764delinsTyrIleValCysLeuAlaHisHisValIleAlaMetTrpPheIleArgCysArgLeuProPheArgLysAspPheValProPheIleThrLysGlyLeuArgSerAsnValLeuLeuSerPheAspAspThrProGluLysAspSerPheArgAlaArgSerThrSerLeuAsnGluArgProLysSerArgIleGlnThrSerLeuThrSerAlaSerLeuGlySerAlaAspGluAsnSerValAlaGlnAlaAspAspSerLeuLysAsnLeuHisLeuGluLeuThrGluThrCysLeuAspMetMetAlaArgTyrValPheSerAsnPheThrAlaValProLysArgSerProValGlyGluPheLeuLeuAlaGlyGlyArgThrLysThrTrpLeuValGlyAsnLysLeuValThrValThrThrSerValGlyThrGlyThrArgSerLeuLeuGlyLeuAspSerGlyGluLeuGlnSerGlyProGluSerSerSerSerProGlyValHisValArgGlnThrLysGluAlaProAlaLysLeuGluSerGlnAlaGlyGlnGlnValSerArgGlyAlaArgAspArgValArgSerMetSerGlyGlyHisGlyLeuArgValGlyAlaLeuAspValProAlaSerGlnPheLeuGlySerAlaThrSerProGlyProArgThrAlaProAlaAlaLysProGluLysAlaSerAlaGlyThrArgValProValGlnGluLysThrAsnLeuAlaAlaTyrValProLeuLeuThrGlnGlyTrpAlaGluIleLeuValArgArgProThrGlyAsnThrSerTrpLeuMetSerLeuGluAsnProLeuSerProPheSerSerAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }