{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA019446", "communityStandardTitle": [ "NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1609072", "active": true, "id": "COSM1609072" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1609073", "active": true, "id": "COSM1609073" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58431[alleleid]", "alleleId": 58431, "preferredName": "NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49269", "RCV": [ "RCV000042528", "RCV000543360" ], "variationId": 49269 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2131647C>A?assembly=hg19", "id": "chr16:g.2131647C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.2081646C>A?assembly=hg38", "id": "chr16:g.2081646C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/45517305", "rs": 45517305 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-2081646-C-A?dataset=gnomad_r4", "id": "16-2081646-C-A", "variant": "16:2081646 C / A" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2081646, "referenceAllele": "C", "start": 2081645 } ], "hgvs": [ "NC_000016.10:g.2081646C>A", "CM000678.2:g.2081646C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2131647, "referenceAllele": "C", "start": 2131646 } ], "hgvs": [ "NC_000016.9:g.2131647C>A", "CM000678.1:g.2131647C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "A", "end": 2071648, "referenceAllele": "C", "start": 2071647 } ], "hgvs": [ "NC_000016.8:g.2071648C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 37341, "referenceAllele": "C", "start": 37340 } ], "hgvs": [ "NG_005895.1:g.37341C>A", "LRG_487:g.37341C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000437" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3562, "referenceAllele": "C", "start": 3561 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568566.6:c.*2080C>A" ], "proteinEffect": { "hgvs": "ENSP00000455997.2:n.*2080C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914316" }, { "coordinates": [ { "allele": "A", "end": 3694, "referenceAllele": "C", "start": 3693 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642206.2:c.3578C>A" ], "proteinEffect": { "hgvs": "ENSP00000495146.2:p.Ser1193Ter", "hgvsWellDefined": "ENSP00000495146.2:p.Ser1193_Val1756delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914400" }, { "coordinates": [ { "allele": "A", "end": 3730, "referenceAllele": "C", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.2:c.3659C>A" ], "proteinEffect": { "hgvs": "ENSP00000495459.2:p.Ser1220Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS914403" }, { "coordinates": [ { "allele": "A", "end": 4766, "referenceAllele": "C", "start": 4765 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644417.2:c.*4111C>A" ], "proteinEffect": { "hgvs": "ENSP00000493912.2:n.*4111C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914414" }, { "coordinates": [ { "allele": "A", "end": 4922, "referenceAllele": "C", "start": 4921 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000646464.2:c.*4584C>A" ], "proteinEffect": { "hgvs": "ENSP00000496610.2:n.*4584C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914421" }, { "coordinates": [ { "allele": "A", "end": 3772, "referenceAllele": "C", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000219476.9:c.3662C>A" ], "proteinEffect": { "hgvs": "ENSP00000219476.3:p.Ser1221Ter", "hgvsWellDefined": "ENSP00000219476.3:p.Ser1221_Val1807delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740437", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.3662C>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.3662C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ser1221Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ser1221Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3737, "referenceAllele": "C", "start": 3736 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000350773.9:c.3662C>A" ], "proteinEffect": { "hgvs": "ENSP00000344383.4:p.Ser1221Ter", "hgvsWellDefined": "ENSP00000344383.4:p.Ser1221_Val1784delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748446" }, { "coordinates": [ { "allele": "A", "end": 3636, "referenceAllele": "C", "start": 3635 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000401874.7:c.3530C>A" ], "proteinEffect": { "hgvs": "ENSP00000384468.2:p.Ser1177Ter", "hgvsWellDefined": "ENSP00000384468.2:p.Ser1177_Val1740delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753982" }, { "coordinates": [ { "allele": "A", "end": 3631, "referenceAllele": "C", "start": 3630 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.6:c.3563C>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ser1188Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Ser1188_Val1751delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760554" }, { "coordinates": [ { "allele": "A", "end": 2316, "referenceAllele": "C", "start": 2315 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642365.1:c.2316C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766702" }, { "coordinates": [ { "allele": "A", "end": 3585, "referenceAllele": "C", "start": 3584 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642561.1:c.3533C>A" ], "proteinEffect": { "hgvs": "ENSP00000495099.1:p.Ser1178Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766811" }, { "coordinates": [ { "allele": "A", "end": 3587, "referenceAllele": "C", "start": 3586 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642797.1:c.3533C>A" ], "proteinEffect": { "hgvs": "ENSP00000493846.1:p.Ser1178Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS766928" }, { "coordinates": [ { "allele": "A", "end": 3639, "referenceAllele": "C", "start": 3638 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000642936.1:c.3530C>A" ], "proteinEffect": { "hgvs": "ENSP00000494514.1:p.Ser1177Ter", "hgvsWellDefined": "ENSP00000494514.1:p.Ser1177_Val1763delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766999" }, { "coordinates": [ { "allele": "A", "end": 3648, "referenceAllele": "C", "start": 3647 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643088.1:c.3530C>A" ], "proteinEffect": { "hgvs": "ENSP00000494747.1:p.Ser1177Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767083" }, { "coordinates": [ { "allele": "A", "end": 1310, "referenceAllele": "C", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643426.1:n.1310C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767277" }, { "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "C", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643533.1:n.172C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767332" }, { "coordinates": [ { "allele": "A", "end": 3780, "referenceAllele": "C", "start": 3779 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000643946.1:c.3662C>A" ], "proteinEffect": { "hgvs": "ENSP00000495927.1:p.Ser1221Ter", "hgvsWellDefined": "ENSP00000495927.1:p.Ser1221_Val1782delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767559" }, { "coordinates": [ { "allele": "A", "end": 3587, "referenceAllele": "C", "start": 3586 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644043.1:c.3533C>A" ], "proteinEffect": { "hgvs": "ENSP00000496262.1:p.Ser1178Ter", "hgvsWellDefined": "ENSP00000496262.1:p.Ser1178_Val1764delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767603" }, { "coordinates": [ { "allele": "A", "end": 3592, "referenceAllele": "C", "start": 3591 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644329.1:c.3530C>A" ], "proteinEffect": { "hgvs": "ENSP00000496611.1:p.Ser1177Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS767764" }, { "coordinates": [ { "allele": "A", "end": 3633, "referenceAllele": "C", "start": 3632 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000644335.1:c.3533C>A" ], "proteinEffect": { "hgvs": "ENSP00000496317.1:p.Ser1178Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247406" }, { "coordinates": [ { "allele": "A", "end": 3218, "referenceAllele": "C", "start": 3217 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439117.6:c.*2829C>A" ], "proteinEffect": { "hgvs": "ENSP00000406980.2:n.*2829C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS295266" }, { "coordinates": [ { "allele": "A", "end": 3503, "referenceAllele": "C", "start": 3502 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000439673.6:c.3422C>A" ], "proteinEffect": { "hgvs": "ENSP00000399232.2:p.Ser1141Ter", "hgvsWellDefined": "ENSP00000399232.2:p.Ser1141_Val1704delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247254" }, { "coordinates": [ { "allele": "A", "end": 1489, "referenceAllele": "C", "start": 1488 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000497886.5:n.1489C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS334013" }, { "coordinates": [ { "allele": "A", "end": 3631, "referenceAllele": "C", "start": 3630 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "ENST00000568454.5:c.3563C>A" ], "proteinEffect": { "hgvs": "ENSP00000454487.1:p.Ser1188Ter", "hgvsWellDefined": "ENSP00000454487.1:p.Ser1188_Val1751delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247412" }, { "@id": "http://reg.genome.network/allele/PA262540", "coordinates": [ { "allele": "A", "end": 3768, "referenceAllele": "C", "start": 3767 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.3:c.3662C>A", "LRG_487t1:c.3662C>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ser1221Ter", "hgvsWellDefined": "NP_000539.2:p.Ser1221_Val1807delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006607" }, { "@id": "http://reg.genome.network/allele/PA2825437764", "coordinates": [ { "allele": "A", "end": 3636, "referenceAllele": "C", "start": 3635 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.1:c.3530C>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ser1177Ter", "hgvsWellDefined": "NP_001070651.1:p.Ser1177_Val1740delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009932" }, { "@id": "http://reg.genome.network/allele/PA2825575830", "coordinates": [ { "allele": "A", "end": 3768, "referenceAllele": "C", "start": 3767 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.1:c.3662C>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ser1221Ter", "hgvsWellDefined": "NP_001107854.1:p.Ser1221_Val1784delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011321" }, { "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "C", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255529.3:c.3533C>A" ], "proteinEffect": { "hgvs": "XP_005255586.2:p.Ser1178Ter", "hgvsWellDefined": "XP_005255586.2:p.Ser1178_Val1764delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060980" }, { "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "C", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.3:c.3533C>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ser1178Ter", "hgvsWellDefined": "XP_005255588.2:p.Ser1178_Val1741delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS060981" }, { "coordinates": [ { "allele": "A", "end": 3749, "referenceAllele": "C", "start": 3748 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.1:c.3662C>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ser1221Ter", "hgvsWellDefined": "XP_011520938.1:p.Ser1221_Val1825delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089783" }, { "coordinates": [ { "allele": "A", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.1:c.3659C>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ser1220Ter", "hgvsWellDefined": "XP_011520939.1:p.Ser1220_Val1824delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089784" }, { "coordinates": [ { "allele": "A", "end": 3710, "referenceAllele": "C", "start": 3709 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.1:c.3551C>A" ], "proteinEffect": { "hgvs": "XP_011520940.1:p.Ser1184Ter", "hgvsWellDefined": "XP_011520940.1:p.Ser1184_Val1788delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089785" }, { "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "C", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.1:c.3533C>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ser1178Ter", "hgvsWellDefined": "XP_011520941.1:p.Ser1178_Val1782delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089786" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "C", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.1:c.3530C>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ser1177Ter", "hgvsWellDefined": "XP_011520942.1:p.Ser1177_Val1781delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089787" }, { "coordinates": [ { "allele": "A", "end": 3581, "referenceAllele": "C", "start": 3580 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522641.1:c.3422C>A" ], "proteinEffect": { "hgvs": "XP_011520943.1:p.Ser1141Ter", "hgvsWellDefined": "XP_011520943.1:p.Ser1141_Val1704delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS089788" }, { "@id": "http://reg.genome.network/allele/PA262540", "coordinates": [ { "allele": "A", "end": 3862, "referenceAllele": "C", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.4:c.3662C>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ser1221Ter", "hgvsWellDefined": "NP_000539.2:p.Ser1221_Val1807delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510811" }, { "@id": "http://reg.genome.network/allele/PA2825437764", "coordinates": [ { "allele": "A", "end": 3730, "referenceAllele": "C", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.2:c.3530C>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ser1177Ter", "hgvsWellDefined": "NP_001070651.1:p.Ser1177_Val1740delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511206" }, { "@id": "http://reg.genome.network/allele/PA2825575830", "coordinates": [ { "allele": "A", "end": 3862, "referenceAllele": "C", "start": 3861 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.2:c.3662C>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ser1221Ter", "hgvsWellDefined": "NP_001107854.1:p.Ser1221_Val1784delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511373" }, { "@id": "http://reg.genome.network/allele/PA2827003688", "coordinates": [ { "allele": "A", "end": 3622, "referenceAllele": "C", "start": 3621 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.1:c.3422C>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ser1141Ter", "hgvsWellDefined": "NP_001305756.1:p.Ser1141_Val1704delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513062" }, { "@id": "http://reg.genome.network/allele/PA2827008849", "coordinates": [ { "allele": "A", "end": 3566, "referenceAllele": "C", "start": 3565 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.1:c.3386C>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Ser1129Ter", "hgvsWellDefined": "NP_001305758.1:p.Ser1129_Val1692delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513064" }, { "@id": "http://reg.genome.network/allele/PA916023149", "coordinates": [ { "allele": "A", "end": 3356, "referenceAllele": "C", "start": 3355 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.1:c.2930C>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Ser977Ter", "hgvsWellDefined": "NP_001305760.1:p.Ser977_Val1563delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513066" }, { "@id": "http://reg.genome.network/allele/PA2827019145", "coordinates": [ { "allele": "A", "end": 3631, "referenceAllele": "C", "start": 3630 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.1:c.3563C>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ser1188Ter", "hgvsWellDefined": "NP_001305761.1:p.Ser1188_Val1751delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS513067" }, { "@id": "http://reg.genome.network/allele/PA2828093559", "coordinates": [ { "allele": "A", "end": 3733, "referenceAllele": "C", "start": 3732 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.1:c.3533C>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ser1178Ter", "hgvsWellDefined": "NP_001350457.1:p.Ser1178_Val1741delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523355" }, { "@id": "http://reg.genome.network/allele/PA2829979502", "coordinates": [ { "allele": "A", "end": 3643, "referenceAllele": "C", "start": 3642 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.2:c.3533C>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ser1178Ter", "hgvsWellDefined": "NP_066399.2:p.Ser1178_Val1764delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526032" }, { "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "C", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_005255531.4:c.3533C>A" ], "proteinEffect": { "hgvs": "XP_005255588.2:p.Ser1178Ter", "hgvsWellDefined": "XP_005255588.2:p.Ser1178_Val1741delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534295" }, { "coordinates": [ { "allele": "A", "end": 3749, "referenceAllele": "C", "start": 3748 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522636.2:c.3662C>A" ], "proteinEffect": { "hgvs": "XP_011520938.1:p.Ser1221Ter", "hgvsWellDefined": "XP_011520938.1:p.Ser1221_Val1825delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546688" }, { "coordinates": [ { "allele": "A", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522637.2:c.3659C>A" ], "proteinEffect": { "hgvs": "XP_011520939.1:p.Ser1220Ter", "hgvsWellDefined": "XP_011520939.1:p.Ser1220_Val1824delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546689" }, { "coordinates": [ { "allele": "A", "end": 3842, "referenceAllele": "C", "start": 3841 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522638.2:c.3824C>A" ], "proteinEffect": { "hgvs": "XP_011520940.2:p.Ser1275Ter", "hgvsWellDefined": "XP_011520940.2:p.Ser1275_Val1879delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546690" }, { "coordinates": [ { "allele": "A", "end": 3620, "referenceAllele": "C", "start": 3619 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522639.2:c.3533C>A" ], "proteinEffect": { "hgvs": "XP_011520941.1:p.Ser1178Ter", "hgvsWellDefined": "XP_011520941.1:p.Ser1178_Val1782delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546691" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "C", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_011522640.2:c.3530C>A" ], "proteinEffect": { "hgvs": "XP_011520942.1:p.Ser1177Ter", "hgvsWellDefined": "XP_011520942.1:p.Ser1177_Val1781delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546692" }, { "coordinates": [ { "allele": "A", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023615.1:c.3659C>A" ], "proteinEffect": { "hgvs": "XP_016879104.1:p.Ser1220Ter", "hgvsWellDefined": "XP_016879104.1:p.Ser1220_Val1806delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574348" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "C", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023616.1:c.3530C>A" ], "proteinEffect": { "hgvs": "XP_016879105.1:p.Ser1177Ter", "hgvsWellDefined": "XP_016879105.1:p.Ser1177_Val1763delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574349" }, { "coordinates": [ { "allele": "A", "end": 3713, "referenceAllele": "C", "start": 3712 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023617.1:c.3695C>A" ], "proteinEffect": { "hgvs": "XP_016879106.1:p.Ser1232Ter", "hgvsWellDefined": "XP_016879106.1:p.Ser1232_Val1795delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574350" }, { "coordinates": [ { "allele": "A", "end": 3836, "referenceAllele": "C", "start": 3835 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_017023618.1:c.2318C>A" ], "proteinEffect": { "hgvs": "XP_016879107.1:p.Ser773Ter", "hgvsWellDefined": "XP_016879107.1:p.Ser773_Val1377delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaGlyIleAlaSerGlnArgGluAlaValGlyCysArgAlaProLeuCysLeuIleAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574351" }, { "coordinates": [ { "allele": "A", "end": 3617, "referenceAllele": "C", "start": 3616 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "XM_024450413.1:c.3530C>A" ], "proteinEffect": { "hgvs": "XP_024306181.1:p.Ser1177Ter", "hgvsWellDefined": "XP_024306181.1:p.Ser1177_Val1769delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValSerGlyGlyGlySerArgArgGluLeuValGlyGlnAlaGlnValProProAspSerGluLeuThrProCysLeuArgProGlnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583950" }, { "@id": "http://reg.genome.network/allele/PA262540", "coordinates": [ { "allele": "A", "end": 3772, "referenceAllele": "C", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_000548.5:c.3662C>A" ], "proteinEffect": { "hgvs": "NP_000539.2:p.Ser1221Ter", "hgvsWellDefined": "NP_000539.2:p.Ser1221_Val1807delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662483", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219476.9:c.3662C>A" }, "RefSeq": { "hgvs": "NM_000548.5:c.3662C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219476.3:p.Ser1221Ter" }, "RefSeq": { "hgvs": "NP_000539.2:p.Ser1221Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828413669", "coordinates": [ { "allele": "A", "end": 3640, "referenceAllele": "C", "start": 3639 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370404.1:c.3530C>A" ], "proteinEffect": { "hgvs": "NP_001357333.1:p.Ser1177Ter", "hgvsWellDefined": "NP_001357333.1:p.Ser1177_Val1763delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692408" }, { "@id": "http://reg.genome.network/allele/PA2828419809", "coordinates": [ { "allele": "A", "end": 3643, "referenceAllele": "C", "start": 3642 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001370405.1:c.3533C>A" ], "proteinEffect": { "hgvs": "NP_001357334.1:p.Ser1178Ter", "hgvsWellDefined": "NP_001357334.1:p.Ser1178_Val1760delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692409" }, { "@id": "http://reg.genome.network/allele/PA2825437764", "coordinates": [ { "allele": "A", "end": 3640, "referenceAllele": "C", "start": 3639 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001077183.3:c.3530C>A" ], "proteinEffect": { "hgvs": "NP_001070651.1:p.Ser1177Ter", "hgvsWellDefined": "NP_001070651.1:p.Ser1177_Val1740delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS711749" }, { "@id": "http://reg.genome.network/allele/PA2825575830", "coordinates": [ { "allele": "A", "end": 3772, "referenceAllele": "C", "start": 3771 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001114382.3:c.3662C>A" ], "proteinEffect": { "hgvs": "NP_001107854.1:p.Ser1221Ter", "hgvsWellDefined": "NP_001107854.1:p.Ser1221_Val1784delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712126" }, { "@id": "http://reg.genome.network/allele/PA2827003688", "coordinates": [ { "allele": "A", "end": 3532, "referenceAllele": "C", "start": 3531 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318827.2:c.3422C>A" ], "proteinEffect": { "hgvs": "NP_001305756.1:p.Ser1141Ter", "hgvsWellDefined": "NP_001305756.1:p.Ser1141_Val1704delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717605" }, { "@id": "http://reg.genome.network/allele/PA2827008849", "coordinates": [ { "allele": "A", "end": 3476, "referenceAllele": "C", "start": 3475 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318829.2:c.3386C>A" ], "proteinEffect": { "hgvs": "NP_001305758.1:p.Ser1129Ter", "hgvsWellDefined": "NP_001305758.1:p.Ser1129_Val1692delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717607" }, { "@id": "http://reg.genome.network/allele/PA916023149", "coordinates": [ { "allele": "A", "end": 3266, "referenceAllele": "C", "start": 3265 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318831.2:c.2930C>A" ], "proteinEffect": { "hgvs": "NP_001305760.1:p.Ser977Ter", "hgvsWellDefined": "NP_001305760.1:p.Ser977_Val1563delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717609" }, { "@id": "http://reg.genome.network/allele/PA2827019145", "coordinates": [ { "allele": "A", "end": 3631, "referenceAllele": "C", "start": 3630 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001318832.2:c.3563C>A" ], "proteinEffect": { "hgvs": "NP_001305761.1:p.Ser1188Ter", "hgvsWellDefined": "NP_001305761.1:p.Ser1188_Val1751delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717610" }, { "@id": "http://reg.genome.network/allele/PA2828093559", "coordinates": [ { "allele": "A", "end": 3643, "referenceAllele": "C", "start": 3642 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_001363528.2:c.3533C>A" ], "proteinEffect": { "hgvs": "NP_001350457.1:p.Ser1178Ter", "hgvsWellDefined": "NP_001350457.1:p.Ser1178_Val1741delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720739" }, { "@id": "http://reg.genome.network/allele/PA2829979502", "coordinates": [ { "allele": "A", "end": 3643, "referenceAllele": "C", "start": 3642 } ], "gene": "http://reg.genome.network/gene/GN012363", "geneNCBI_id": 7249, "geneSymbol": "TSC2", "hgvs": [ "NM_021055.3:c.3533C>A" ], "proteinEffect": { "hgvs": "NP_066399.2:p.Ser1178Ter", "hgvsWellDefined": "NP_066399.2:p.Ser1178_Val1764delinsAspIleAsnAsnMetProLeuGlnGluLeuSerAsnAlaLeuMetAlaAlaGluArgPheLysGluHisArgAspThrAlaLeuTyrLysSerLeuSerValProAlaAlaSerThrAlaLysProProProLeuProArgSerAsnThrValAlaSerPheSerSerLeuTyrGlnSerSerCysGlnGlyGlnLeuHisArgSerValSerTrpAlaAspSerAlaValValMetGluGluGlySerProGlyGluValProValLeuValGluProProGlyLeuGluAspValGluAlaAlaLeuGlyMetAspArgArgThrAspAlaTyrSerArgSerSerSerValSerSerGlnGluGluLysSerLeuHisAlaGluGluLeuValGlyArgGlyIleProIleGluArgValValSerSerGluGlyGlyArgProSerValAspLeuSerPheGlnProSerGlnProLeuSerLysSerSerSerSerProGluLeuGlnThrLeuGlnAspIleLeuGlyAspProGlyAspLysAlaAspValGlyArgLeuSerProGluValLysAlaArgSerGlnSerGlyThrLeuAspGlyGluSerAlaAlaTrpSerAlaSerGlyGluAspSerArgGlyGlnProGluGlyProLeuProSerSerSerProArgSerProSerGlyLeuArgProArgGlyTyrThrIleSerAspSerAlaProSerArgArgGlyLysArgValGluArgAspAlaLeuLysSerArgAlaThrAlaSerAsnAlaGluLysValProGlyIleAsnProSerPheValPheLeuGlnLeuTyrHisSerProPhePheGlyAspGluSerAsnLysProIleLeuLeuProAsnGluSerGlnSerPheGluArgSerValGlnLeuLeuAspGlnIleProSerTyrAspThrHisLysIleAlaValLeuTyrValGlyGluGlyGlnSerAsnSerGluLeuAlaIleLeuSerAsnGluHisGlySerTyrArgTyrThrGluPheLeuThrGlyLeuGlyArgLeuIleGluLeuLysAspCysGlnProAspLysValTyrLeuGlyGlyLeuAspValCysGlyGluAspGlyGlnPheThrTyrCysTrpHisAspAspIleMetGlnAlaValPheHisIleAlaThrLeuMetProThrLysAspValAspLysHisArgCysAspLysLysArgHisLeuGlyAsnAspPheValSerIleValTyrAsnAspSerGlyGluAspPheLysLeuGlyThrIleLysGlyGlnPheAsnPheValHisValIleValThrProLeuAspTyrGluCysAsnLeuValSerLeuGlnCysArgLysAspMetGluGlyLeuValAspThrSerValAlaLysIleValSerAspArgAsnLeuProPheValAlaArgGlnMetAlaLeuHisAlaAsnMetAlaSerGlnValHisHisSerArgSerAsnProThrAspIleTyrProSerLysTrpIleAlaArgLeuArgHisIleLysArgLeuArgGlnArgIleCysGluGluAlaAlaTyrSerAsnProSerLeuProLeuValHisProProSerHisSerLysAlaProAlaGlnThrProAlaGluProThrProGlyTyrGluValGlyGlnArgLysArgLeuIleSerSerValGluAspPheThrGluPheValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728502" } ], "type": "nucleotide" }