{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA001817", "communityStandardTitle": [ "NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=69340[alleleid]", "alleleId": 69340, "preferredName": "NM_007294.4(BRCA1):c.2761C>T (p.Gln921Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/54673", "RCV": [ "RCV000111933", "RCV000221485", "RCV000496230", "RCV003148644" ], "variationId": 54673 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.41244787G>A?assembly=hg19", "id": "chr17:g.41244787G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.43092770G>A?assembly=hg38", "id": "chr17:g.43092770G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/80357377", "rs": 80357377 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 43092770, "referenceAllele": "G", "start": 43092769 } ], "hgvs": [ "NC_000017.11:g.43092770G>A", "CM000679.2:g.43092770G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 41244787, "referenceAllele": "G", "start": 41244786 } ], "hgvs": [ "NC_000017.10:g.41244787G>A", "CM000679.1:g.41244787G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 38498313, "referenceAllele": "G", "start": 38498312 } ], "hgvs": [ "NC_000017.9:g.38498313G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 125214, "referenceAllele": "C", "start": 125213 } ], "hgvs": [ "NG_005905.2:g.125214C>T", "LRG_292:g.125214C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000438" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2825, "referenceAllele": "C", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.8:n.2825C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS913973" }, { "coordinates": [ { "allele": "T", "end": 2880, "referenceAllele": "C", "start": 2879 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461574.2:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000417241.2:p.Gln921Ter", "hgvsWellDefined": "ENSP00000417241.2:p.Gln921_Tyr1862delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914104" }, { "coordinates": [ { "allele": "T", "end": 2942, "referenceAllele": "C", "start": 2941 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000470026.6:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000419274.2:p.Gln921Ter", "hgvsWellDefined": "ENSP00000419274.2:p.Gln921_Tyr1863delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914115" }, { "coordinates": [ { "allele": "T", "end": 2748, "referenceAllele": "C", "start": 2747 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000473961.6:c.2635C>T" ], "proteinEffect": { "hgvs": "ENSP00000420201.2:p.Gln879Ter", "hgvsWellDefined": "ENSP00000420201.2:p.Gln879_Tyr1821delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914123" }, { "coordinates": [ { "allele": "T", "end": 2867, "referenceAllele": "C", "start": 2866 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000476777.6:c.2758C>T" ], "proteinEffect": { "hgvs": "ENSP00000417554.2:p.Gln920Ter", "hgvsWellDefined": "ENSP00000417554.2:p.Gln920_Tyr1861delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914128" }, { "coordinates": [ { "allele": "T", "end": 2796, "referenceAllele": "C", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000477152.6:c.2683C>T" ], "proteinEffect": { "hgvs": "ENSP00000419988.2:p.Gln895Ter", "hgvsWellDefined": "ENSP00000419988.2:p.Gln895_Tyr1837delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914130" }, { "coordinates": [ { "allele": "T", "end": 886, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 886, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000478531.6:c.785-1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000420412.2:n.785-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914132" }, { "coordinates": [ { "allele": "T", "end": 2842, "referenceAllele": "C", "start": 2841 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000489037.2:c.2683C>T" ], "proteinEffect": { "hgvs": "ENSP00000420781.2:p.Gln895Ter", "hgvsWellDefined": "ENSP00000420781.2:p.Gln895_Tyr1837delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914157" }, { "coordinates": [ { "allele": "T", "end": 878, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 878, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000493919.6:c.647-1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000418819.2:n.647-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914168" }, { "coordinates": [ { "allele": "T", "end": 2954, "referenceAllele": "C", "start": 2953 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000494123.6:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000419103.2:p.Gln921Ter", "hgvsWellDefined": "ENSP00000419103.2:p.Gln921_Tyr1863delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914169" }, { "coordinates": [ { "allele": "T", "end": 2121, "referenceAllele": "C", "start": 2120 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000497488.2:c.1873C>T" ], "proteinEffect": { "hgvs": "ENSP00000418986.2:p.Gln625Ter", "hgvsWellDefined": "ENSP00000418986.2:p.Gln625_Tyr1567delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914174" }, { "coordinates": [ { "allele": "T", "end": 3408, "referenceAllele": "C", "start": 3407 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000618469.2:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000478114.2:p.Gln921Ter", "hgvsWellDefined": "ENSP00000478114.2:p.Gln921_Tyr1863delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914368" }, { "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000634433.2:c.2638C>T" ], "proteinEffect": { "hgvs": "ENSP00000489431.2:p.Gln880Ter", "hgvsWellDefined": "ENSP00000489431.2:p.Gln880_Tyr1822delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914383" }, { "coordinates": [ { "allele": "T", "end": 2874, "referenceAllele": "C", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644379.2:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000496570.2:p.Gln921Ter", "hgvsWellDefined": "ENSP00000496570.2:p.Gln921_Tyr1885delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914413" }, { "coordinates": [ { "allele": "T", "end": 1051, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 1051, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000644555.2:c.647-1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000494614.2:n.647-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914415" }, { "coordinates": [ { "allele": "T", "end": 3106, "referenceAllele": "C", "start": 3105 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000652672.2:c.2620C>T" ], "proteinEffect": { "hgvs": "ENSP00000498906.2:p.Gln874Ter", "hgvsWellDefined": "ENSP00000498906.2:p.Gln874_Tyr1816delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914437" }, { "coordinates": [ { "allele": "T", "end": 756, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 756, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000484087.6:c.665-1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000419481.2:n.665-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905314" }, { "coordinates": [ { "allele": "T", "end": 798, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 798, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000700182.1:c.707-1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000514849.1:n.707-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911031" }, { "coordinates": [ { "allele": "T", "end": 2874, "referenceAllele": "C", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.9:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln921Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Gln921_Tyr1863delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748973", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.2761C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.2761C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln921Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln921Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2993, "referenceAllele": "C", "start": 2992 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.7:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln921Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Gln921_Tyr1884delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757017" }, { "coordinates": [ { "allele": "T", "end": 789, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 789, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000352993.7:c.671-1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000312236.5:n.671-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247155" }, { "coordinates": [ { "allele": "T", "end": 2825, "referenceAllele": "C", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000354071.7:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000326002.7:p.Gln921Ter", "hgvsWellDefined": "ENSP00000326002.7:p.Gln921_Ser1399delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyIleGlyThrArgPheLeuCysLeuProGlnSerIleTyrArgSerGluLeuAsnValTyrAlaPheGlyGluHisIleLeuGlnIleSerLysTyrSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247245" }, { "coordinates": [ { "allele": "T", "end": 2880, "referenceAllele": "C", "start": 2879 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000357654.7:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000350283.3:p.Gln921Ter", "hgvsWellDefined": "ENSP00000350283.3:p.Gln921_Tyr1863delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS246738" }, { "coordinates": [ { "allele": "T", "end": 2862, "referenceAllele": "C", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000461221.5:c.*2544C>T" ], "proteinEffect": { "hgvs": "ENSP00000418548.1:n.*2544C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305785" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000468300.5:c.788-1738C>T" ], "proteinEffect": { "hgvs": "ENSP00000417148.1:n.788-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247345" }, { "coordinates": [ { "allele": "T", "end": 2993, "referenceAllele": "C", "start": 2992 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000471181.6:c.2761C>T" ], "proteinEffect": { "hgvs": "ENSP00000418960.2:p.Gln921Ter", "hgvsWellDefined": "ENSP00000418960.2:p.Gln921_Tyr1884delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" 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"http://reg.genome.network/refseq/RS247162" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "-", "endIntronOffset": 18248, "referenceAllele": "C", "start": 59, "startIntronDirection": "-", "startIntronOffset": 18249 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591534.5:c.-43-18249C>T" ], "proteinEffect": { "hgvs": "ENSP00000467329.1:n.-43-18249C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247210" }, { "coordinates": [ { "allele": "T", "end": 59, "endIntronDirection": "+", "endIntronOffset": 32501, "referenceAllele": "C", "start": 59, "startIntronDirection": "+", "startIntronOffset": 32500 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "ENST00000591849.5:c.-99+32501C>T" ], "proteinEffect": { "hgvs": "ENSP00000465347.1:n.-99+32501C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246631" }, { 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}, "referenceSequence": "http://reg.genome.network/refseq/RS032213" }, { "coordinates": [ { "allele": "T", "end": 806, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 806, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007298.3:c.788-1738C>T" ], "proteinEffect": { "hgvs": "NP_009229.2:n.788-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS032214" }, { "coordinates": [ { "allele": "T", "end": 981, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 981, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.3:c.788-1738C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS032215" }, { "@id": "http://reg.genome.network/allele/PA915998558", "coordinates": [ { "allele": "T", "end": 2993, "referenceAllele": "C", "start": 2992 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.3:c.2761C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln921Ter", "hgvsWellDefined": "NP_009231.2:p.Gln921_Tyr1884delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032216" }, { "coordinates": [ { "allele": "T", "end": 2897, "referenceAllele": "C", "start": 2896 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.1:n.2897C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS047824" }, { "@id": "http://reg.genome.network/allele/PA267975", "coordinates": [ { "allele": "T", "end": 2874, "referenceAllele": "C", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007294.4:c.2761C>T" ], "proteinEffect": { "hgvs": "NP_009225.1:p.Gln921Ter", "hgvsWellDefined": "NP_009225.1:p.Gln921_Tyr1863delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696962", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357654.9:c.2761C>T" }, "RefSeq": { "hgvs": "NM_007294.4:c.2761C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350283.3:p.Gln921Ter" }, "RefSeq": { "hgvs": "NP_009225.1:p.Gln921Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829691741", "coordinates": [ { "allele": "T", "end": 2814, "referenceAllele": "C", "start": 2813 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007297.4:c.2620C>T" ], "proteinEffect": { "hgvs": "NP_009228.2:p.Gln874Ter", "hgvsWellDefined": "NP_009228.2:p.Gln874_Tyr1816delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAlaValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696963" }, { "coordinates": [ { "allele": "T", "end": 894, "endIntronDirection": "-", "endIntronOffset": 1737, "referenceAllele": "C", "start": 894, "startIntronDirection": "-", "startIntronOffset": 1738 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007299.4:c.788-1738C>T" ], "proteinEffect": { "hgvs": "NP_009230.2:n.788-1738C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS696964" }, { "@id": "http://reg.genome.network/allele/PA915998558", "coordinates": [ { "allele": "T", "end": 2874, "referenceAllele": "C", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NM_007300.4:c.2761C>T" ], "proteinEffect": { "hgvs": "NP_009231.2:p.Gln921Ter", "hgvsWellDefined": "NP_009231.2:p.Gln921_Tyr1884delinsThrValAsnIleThrAlaGlyPheProValValGlyGlnLysAspLysProValAspAsnAlaLysCysSerIleLysGlyGlySerArgPheCysLeuSerSerGlnPheArgGlyAsnGluThrGlyLeuIleThrProAsnLysHisGlyLeuLeuGlnAsnProTyrArgIleProProLeuPheProIleLysSerPheValLysThrLysCysLysLysAsnLeuLeuGluGluAsnPheGluGluHisSerMetSerProGluArgGluMetGlyAsnGluAsnIleProSerThrValSerThrIleSerArgAsnAsnIleArgGluAsnValPheLysGluAlaSerSerSerAsnIleAsnGluValGlySerSerThrAsnGluValGlySerSerIleAsnGluIleGlySerSerAspGluAsnIleGlnAlaGluLeuGlyArgAsnArgGlyProLysLeuAsnAlaMetLeuArgLeuGlyValLeuGlnProGluValTyrLysGlnSerLeuProGlySerAsnCysLysHisProGluIleLysLysGlnGluTyrGluGluValValGlnThrValAsnThrAspPheSerProTyrLeuIleSerAspAsnLeuGluGlnProMetGlySerSerHisAlaSerGlnValCysSerGluThrProAspAspLeuLeuAspAspGlyGluIleLysGluAspThrSerPheAlaGluAsnAspIleLysGluSerSerAlaValPheSerLysSerValGlnLysGlyGluLeuSerArgSerProSerProPheThrHisThrHisLeuAlaGlnGlyTyrArgArgGlyAlaLysLysLeuGluSerSerGluGluAsnLeuSerSerGluAspGluGluLeuProCysPheGlnHisLeuLeuPheGlyLysValAsnAsnIleProSerGlnSerThrArgHisSerThrValAlaThrGluCysLeuSerLysAsnThrGluGluAsnLeuLeuSerLeuLysAsnSerLeuAsnAspCysSerAsnGlnValIleLeuAlaLysAlaSerGlnGluHisHisLeuSerGluGluThrLysCysSerAlaSerLeuPheSerSerGlnCysSerGluLeuGluAspLeuThrAlaAsnThrAsnThrGlnAspProPheLeuIleGlySerSerLysGlnMetArgHisGlnSerGluSerGlnGlyValGlyLeuSerAspLysGluLeuValSerAspAspGluGluArgGlyThrGlyLeuGluGluAsnAsnGlnGluGluGlnSerMetAspSerAsnLeuGlyGluAlaAlaSerGlyCysGluSerGluThrSerValSerGluAspCysSerGlyLeuSerSerGlnSerAspIleLeuThrThrGlnGlnArgAspThrMetGlnHisAsnLeuIleLysLeuGlnGlnGluMetAlaGluLeuGluAlaValLeuGluGlnHisGlySerGlnProSerAsnSerTyrProSerIleIleSerAspSerSerAlaLeuGluAspLeuArgAsnProGluGlnSerThrSerGluLysAspSerHisIleHisGlyGlnArgAsnAsnSerMetPheSerLysArgProArgGluHisIleSerValLeuThrSerGlnLysSerSerGluTyrProIleSerGlnAsnProGluGlyLeuSerAlaAspLysPheGluValSerAlaAspSerSerThrSerLysAsnLysGluProGlyValGluArgSerSerProSerLysCysProSerLeuAspAspArgTrpTyrMetHisSerCysSerGlySerLeuGlnAsnArgAsnTyrProSerGlnGluGluLeuIleLysValValAspValGluGluGlnGlnLeuGluGluSerGlyProHisAspLeuThrGluThrSerTyrLeuProArgGlnAspLeuGluGlyThrProTyrLeuGluSerGlyIleSerLeuPheSerAspAspProGluSerAspProSerGluAspArgAlaProGluSerAlaArgValGlyAsnIleProSerSerThrSerAlaLeuLysValProGlnLeuLysValAlaGluSerAlaGlnSerProAlaAlaAlaHisThrThrAspThrAlaGlyTyrAsnAlaMetGluGluSerValSerArgGluLysProGluLeuThrAlaSerThrGluArgValAsnLysArgMetSerMetValValSerGlyLeuThrProGluGluPheMetLeuValTyrLysPheAlaArgLysHisHisIleThrLeuThrAsnLeuIleThrGluGluThrThrHisValValMetLysThrAspAlaGluPheValCysGluArgThrLeuLysTyrPheLeuGlyIleAlaGlyGlyLysTrpValValSerTyrPheTrpValThrGlnSerIleLysGluArgLysMetLeuAsnGluHisAspPheGluValArgGlyAspValValAsnGlyArgAsnHisGlnGlyProLysArgAlaArgGluSerGlnAspArgLysIlePheArgGlyLeuGluIleCysCysTyrGlyProPheThrAsnMetProThrAspGlnLeuGluTrpMetValGlnLeuCysGlyAlaSerValValLysGluLeuSerSerPheThrLeuGlyThrGlyValHisProIleValValValGlnProAspAlaTrpThrGluAspAsnGlyPheHisAlaIleGlyGlnMetCysGluAlaProValValThrArgGluTrpValLeuAspSerValAlaLeuTyrGlnCysGlnGluLeuAspThrTyrLeuIleProGlnIleProHisSerHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696965" }, { "coordinates": [ { "allele": "T", "end": 2938, "referenceAllele": "C", "start": 2937 } ], "gene": "http://reg.genome.network/gene/GN001100", "geneNCBI_id": 672, "geneSymbol": "BRCA1", "hgvs": [ "NR_027676.2:n.2938C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS701973" } ], "type": "nucleotide" }