{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA007158", "communityStandardTitle": [ "NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5924497", "active": true, "id": "COSM5924497" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5924498", "active": true, "id": "COSM5924498" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58175[alleleid]", "alleleId": 58175, "preferredName": "NM_000368.5(TSC1):c.309G>A (p.Trp103Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49013", "RCV": [ "RCV000042264", "RCV001380988" ], "variationId": 49013 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.135801028C>T?assembly=hg19", "id": "chr9:g.135801028C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.132925641C>T?assembly=hg38", "id": "chr9:g.132925641C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118203365", "rs": 118203365 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 132925641, "referenceAllele": "C", "start": 132925640 } ], "hgvs": [ "NC_000009.12:g.132925641C>T", "CM000671.2:g.132925641C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 135801028, "referenceAllele": "C", "start": 135801027 } ], "hgvs": [ "NC_000009.11:g.135801028C>T", "CM000671.1:g.135801028C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 134790849, "referenceAllele": "C", "start": 134790848 } ], "hgvs": [ "NC_000009.10:g.134790849C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 23993, "referenceAllele": "G", "start": 23992 } ], "hgvs": [ "NG_012386.1:g.23993G>A", "LRG_486:g.23993G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002390" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.7:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000496126.2:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914126" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "G", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.4:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495533.2:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914163" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642261.2:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000494743.2:p.Trp103Ter", "hgvsWellDefined": "ENSP00000494743.2:p.Trp103_Ser738delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914401" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643275.2:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495598.2:p.Trp103Ter", "hgvsWellDefined": "ENSP00000495598.2:p.Trp103_Arg671delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914407" }, { "coordinates": [ { "allele": "A", "end": 469, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 469, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.2:c.210+1560G>A" ], "proteinEffect": { "hgvs": "ENSP00000496398.2:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914408" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643625.2:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495546.2:p.Trp103Ter", "hgvsWellDefined": "ENSP00000495546.2:p.Trp103_Gly696delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914410" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "G", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.2:c.-55G>A" ], "proteinEffect": { "hgvs": "ENSP00000494916.2:n.-55G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914411" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644184.2:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495428.2:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914412" }, { "coordinates": [ { "allele": "A", "end": 415, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 415, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.2:c.210+1560G>A" ], "proteinEffect": { "hgvs": "ENSP00000493639.2:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914417" }, { "coordinates": [ { "allele": "A", "end": 643, "referenceAllele": "G", "start": 642 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646440.2:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495830.2:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS914420" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.2:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Trp103_Thr381delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914425" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.9:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS744603", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.309G>A" }, "RefSeq": { "hgvs": "NM_000368.5:c.309G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Trp103Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.6:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Trp103_Ile366delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS754067" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.6:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000496126.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000496126.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS757170" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "G", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.3:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495533.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000495533.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS757630" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642344.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000494847.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000494847.1:p.Trp103_Gln127delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysArgHisGluAsnIleGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766689" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642617.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000493773.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766841" }, { "coordinates": [ { "allele": "A", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642627.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000496772.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS766846" }, { "coordinates": [ { "allele": "A", "end": 831, "referenceAllele": "G", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642646.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000496292.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000496292.1:p.Trp103_Thr454delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766858" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642745.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000493963.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000493963.1:p.Trp103_Thr454delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766906" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "G", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642811.1:c.*79G>A" ], "proteinEffect": { "hgvs": "ENSP00000495554.1:n.*79G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS766935" }, { "coordinates": [ { "allele": "A", "end": 575, "referenceAllele": "G", "start": 574 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000642854.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000494639.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000494639.1:p.Trp103_Gly135delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysPheLeuAspLeuPheSerIleTyrLysIleArgLysCysGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766958" }, { "coordinates": [ { "allele": "A", "end": 427, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 427, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643072.1:c.210+1560G>A" ], "proteinEffect": { "hgvs": "ENSP00000496691.1:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767076" }, { "coordinates": [ { "allele": "A", "end": 469, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 469, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643362.1:c.210+1560G>A" ], "proteinEffect": { "hgvs": "ENSP00000496398.1:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767241" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643583.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000494685.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767358" }, { "coordinates": [ { "allele": "A", "end": 224, "referenceAllele": "G", "start": 223 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643691.1:c.-55G>A" ], "proteinEffect": { "hgvs": "ENSP00000494916.1:n.-55G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767414" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000643875.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495158.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767519" }, { "coordinates": [ { "allele": "A", "end": 650, "referenceAllele": "G", "start": 649 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644097.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000494682.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767631" }, { "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644255.1:c.*79G>A" ], "proteinEffect": { "hgvs": "ENSP00000493608.1:n.*79G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767724" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000644997.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495654.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000495654.1:p.Trp103_Gly144delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysAspGlySerThrIleGlyPheIleCysTyrSerThrMetGlnIleAspPheCysValCysGlnGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768113" }, { "coordinates": [ { "allele": "A", "end": 415, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 415, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645129.1:c.210+1560G>A" ], "proteinEffect": { "hgvs": "ENSP00000493639.1:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768186" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645150.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000494365.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000494365.1:p.Trp103_Thr454delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768198" }, { "coordinates": [ { "allele": "A", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645901.1:n.512G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768597" }, { "coordinates": [ { "allele": "A", "end": 1987, "referenceAllele": "G", "start": 1986 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000645904.1:n.1987G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768599" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646391.1:c.*79G>A" ], "proteinEffect": { "hgvs": "ENSP00000494104.1:n.*79G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768848" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "G", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000646625.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000496263.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS768978" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "G", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647078.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000496066.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000496066.1:p.Trp103_Thr381delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyTyrSerLeuGluProIleTyrGlyLeuTrpTyrAspHisSerSerAsnPheSerTrpLysCysProThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769222" }, { "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647279.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000494502.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000494502.1:p.Trp103_Ser228delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysValGluGluIleArgAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769329" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647462.1:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000495821.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000495821.1:p.Trp103_Thr453delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysValArgSerSerSerSerAlaIleProLeuProArgHisSerAspSerLeuAlaSerLeuThrLeuArgSerLeuIleMetProAspArgIleLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769427" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000647506.1:n.537G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS769453" }, { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "G", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000298552.7:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000298552.3:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS246725" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000403810.5:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000386093.1:p.Trp103Ter", "hgvsWellDefined": "ENSP00000386093.1:p.Trp103_Ile366delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnValTrpCysGlnLeuValCysLeuLeuSerProLeuLeuSerGlyGluAlaAspProLeuGlyGlnIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247230" }, { "coordinates": [ { "allele": "A", "end": 392, "referenceAllele": "G", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000440111.6:c.309G>A" ], "proteinEffect": { "hgvs": "ENSP00000394524.2:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS247294" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "G", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000475903.5:n.466G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317085" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000490179.2:n.627G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS328072" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000493467.5:n.505G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS330611" }, { "coordinates": [ { "allele": "A", "end": 293, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 293, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "ENST00000545250.5:c.210+1560G>A" ], "proteinEffect": { "hgvs": "ENSP00000444017.1:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247297" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.4:c.309G>A", "LRG_486t1:c.309G>A" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS006430" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.1:c.309G>A" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS014316" }, { "coordinates": [ { "allele": "A", "end": 444, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 444, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.1:c.210+1560G>A" ], "proteinEffect": { "hgvs": "NP_001155899.1:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS014317" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_005272211.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_005272268.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS067177" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717271.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_006717334.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS072084" }, { "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_006717272.2:c.309G>A" ], "proteinEffect": { "hgvs": "XP_006717335.1:p.Trp103Ter", "hgvsWellDefined": "XP_006717335.1:p.Trp103_Phe667delinsLysHisLysLeuSerGlnAlaProLeuLeuProSerLeuLeuLysCysLeuLysMetAspThrAspValValValLeuThrThrGlyValLeuValLeuIleThrMetLeuProMetIleProGlnSerGlyLysGlnHisLeuLeuAspPhePheAspIlePheGlyArgLeuSerSerTrpCysLeuLysLysProGlyHisValAlaGluValTyrLeuValHisLeuHisAlaSerValTyrAlaLeuPheHisArgLeuTyrGlyMetTyrProCysAsnPheValSerPheLeuArgSerHisTyrSerMetLysGluAsnLeuGluThrPheGluGluValValLysProMetMetGluHisValArgIleHisProGluLeuValThrGlySerLysAspHisGluLeuAspProArgArgTrpLysArgLeuGluThrHisAspValValIleGluCysAlaLysIleSerLeuAspProThrGluAlaSerTyrGluAspGlyTyrSerValSerHisGlnIleSerAlaArgPheProHisArgSerAlaAspValThrThrSerProTyrAlaAspThrGlnAsnSerTyrGlyCysAlaThrSerThrProTyrSerThrSerArgLeuMetLeuLeuAsnMetProGlyGlnLeuProGlnThrLeuSerSerProSerThrArgLeuIleThrGluProProGlnAlaThrLeuTrpSerProSerMetValCysGlyMetThrThrProProThrSerProGlyAsnValProProAspLeuSerHisProTyrSerLysValPheGlyThrThrAlaGlyGlyLysGlyThrProLeuGlyThrProAlaThrSerProProProAlaProLeuCysHisSerAspAspTyrValHisIleSerLeuProGlnAlaThrValThrProProArgLysGluGluArgMetAspSerAlaArgProCysLeuHisArgGlnHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072085" }, { "coordinates": [ { "allele": "A", "end": 638, "referenceAllele": "G", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS086153" }, { "coordinates": [ { "allele": "A", "end": 439, "referenceAllele": "G", "start": 438 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.1:c.-55G>A" ], "proteinEffect": { "hgvs": "NP_001349106.1:n.-55G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523007" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_011518979.2:c.309G>A" ], "proteinEffect": { "hgvs": "XP_011517281.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS545159" }, { "coordinates": [ { "allele": "A", "end": 1002, "referenceAllele": "G", "start": 1001 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015096.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_016870585.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS567917" }, { "coordinates": [ { "allele": "A", "end": 973, "referenceAllele": "G", "start": 972 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015097.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_016870586.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS567918" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015098.1:c.309G>A" ], "proteinEffect": { "hgvs": "XP_016870587.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS567919" }, { "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "G", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015100.1:c.-55G>A" ], "proteinEffect": { "hgvs": "XP_016870589.1:n.-55G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567920" }, { "coordinates": [ { "allele": "A", "end": 682, "referenceAllele": "G", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "XM_017015101.1:c.-55G>A" ], "proteinEffect": { "hgvs": "XP_016870590.1:n.-55G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS567921" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_000368.5:c.309G>A" ], "proteinEffect": { "hgvs": "NP_000359.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS674813", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000298552.9:c.309G>A" }, "RefSeq": { "hgvs": "NM_000368.5:c.309G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000298552.3:p.Trp103Ter" }, "RefSeq": { "hgvs": "NP_000359.1:p.Trp103Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162426.2:c.309G>A" ], "proteinEffect": { "hgvs": "NP_001155898.1:p.Trp103Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS678218" }, { "coordinates": [ { "allele": "A", "end": 427, "endIntronDirection": "+", "endIntronOffset": 1560, "referenceAllele": "G", "start": 427, "startIntronDirection": "+", "startIntronOffset": 1559 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001162427.2:c.210+1560G>A" ], "proteinEffect": { "hgvs": "NP_001155899.1:n.210+1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS678219" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "G", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN012362", "geneNCBI_id": 7248, "geneSymbol": "TSC1", "hgvs": [ "NM_001362177.2:c.-55G>A" ], "proteinEffect": { "hgvs": "NP_001349106.1:n.-55G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690502" } ], "type": "nucleotide" }