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}, "referenceSequence": "http://reg.genome.network/refseq/RS092453" }, { "coordinates": [ { "allele": "A", "end": 3132, "referenceAllele": "G", "start": 3131 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.1:c.2448G>A" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Trp816Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS092454" }, { "coordinates": [ { "allele": "A", "end": 3072, "referenceAllele": "G", "start": 3071 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.1:c.2388G>A" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Trp796Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS092455" }, { "coordinates": [ { "allele": "A", "end": 2991, "referenceAllele": "G", "start": 2990 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.1:c.2307G>A" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Trp769Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS092456" }, { "coordinates": [ { "allele": "A", "end": 2127, "referenceAllele": "G", "start": 2126 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.1:c.2025G>A" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Trp675Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS092457" }, { "coordinates": [ { "allele": "A", "end": 3392, "referenceAllele": "G", "start": 3391 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.1:c.*89G>A" ], "proteinEffect": { "hgvs": "XP_011523641.1:n.*89G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS092458" }, { "coordinates": [ { "allele": "A", "end": 3192, "referenceAllele": "G", "start": 3191 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.1:c.2508G>A" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Trp836Ter", "hgvsWellDefined": "XP_011523642.1:p.Trp836_Phe853delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092459" }, { "coordinates": [ { "allele": "A", "end": 3246, "referenceAllele": "G", "start": 3245 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525332.3:c.2508G>A" ], "proteinEffect": { "hgvs": "XP_011523634.1:p.Trp836Ter", "hgvsWellDefined": "XP_011523634.1:p.Trp836_Lys1269delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547837" }, { "coordinates": [ { "allele": "A", "end": 3243, "referenceAllele": "G", "start": 3242 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525333.3:c.2508G>A" ], "proteinEffect": { "hgvs": "XP_011523635.1:p.Trp836Ter", "hgvsWellDefined": "XP_011523635.1:p.Trp836_Lys1269delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547838" }, { "coordinates": [ { "allele": "A", "end": 3902, "referenceAllele": "G", "start": 3901 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525334.2:c.2508G>A" ], "proteinEffect": { "hgvs": "XP_011523636.1:p.Trp836Ter", "hgvsWellDefined": "XP_011523636.1:p.Trp836_Lys1269delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547839" }, { "coordinates": [ { "allele": "A", "end": 3186, "referenceAllele": "G", "start": 3185 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.3:c.2448G>A" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Trp816Ter", "hgvsWellDefined": "XP_011523637.1:p.Trp816_Lys1249delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547840" }, { "coordinates": [ { "allele": "A", "end": 3123, "referenceAllele": "G", "start": 3122 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.2:c.2388G>A" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Trp796Ter", "hgvsWellDefined": "XP_011523638.1:p.Trp796_Lys1229delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547841" }, { "coordinates": [ { "allele": "A", "end": 3042, "referenceAllele": "G", "start": 3041 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.2:c.2307G>A" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Trp769Ter", "hgvsWellDefined": "XP_011523639.1:p.Trp769_Lys1202delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547842" }, { "coordinates": [ { "allele": "A", "end": 2122, "referenceAllele": "G", "start": 2121 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.2:c.2025G>A" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Trp675Ter", "hgvsWellDefined": "XP_011523640.1:p.Trp675_Lys1108delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547843" }, { "coordinates": [ { "allele": "A", "end": 3575, "referenceAllele": "G", "start": 3574 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.3:c.*89G>A" ], "proteinEffect": { "hgvs": "XP_011523641.1:n.*89G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS547844" }, { "coordinates": [ { "allele": "A", "end": 3371, "referenceAllele": "G", "start": 3370 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.3:c.2508G>A" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Trp836Ter", "hgvsWellDefined": "XP_011523642.1:p.Trp836_Phe853delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547845" }, { "coordinates": [ { "allele": "A", "end": 2062, "referenceAllele": "G", "start": 2061 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025200.1:c.1965G>A" ], "proteinEffect": { "hgvs": "XP_016880689.1:p.Trp655Ter", "hgvsWellDefined": "XP_016880689.1:p.Trp655_Lys1088delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575589" }, { "coordinates": [ { "allele": "A", "end": 2827, "referenceAllele": "G", "start": 2826 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025201.1:c.1965G>A" ], "proteinEffect": { "hgvs": "XP_016880690.1:p.Trp655Ter", "hgvsWellDefined": "XP_016880690.1:p.Trp655_Lys1088delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575590" }, { "coordinates": [ { "allele": "A", "end": 1190, "referenceAllele": "G", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025202.1:c.594G>A" ], "proteinEffect": { "hgvs": "XP_016880691.1:p.Trp198Ter", "hgvsWellDefined": "XP_016880691.1:p.Trp198_Lys631delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575591" }, { "coordinates": [ { "allele": "A", "end": 702, "referenceAllele": "G", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025203.1:c.594G>A" ], "proteinEffect": { "hgvs": "XP_016880692.1:p.Trp198Ter", "hgvsWellDefined": "XP_016880692.1:p.Trp198_Lys631delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575592" }, { "@id": "http://reg.genome.network/allele/PA334774", "coordinates": [ { "allele": "A", "end": 2723, "referenceAllele": "G", "start": 2722 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "NM_032043.3:c.2448G>A" ], "proteinEffect": { "hgvs": "NP_114432.2:p.Trp816Ter", "hgvsWellDefined": "NP_114432.2:p.Trp816_Lys1249delinsTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000259008.7:c.2448G>A" }, "RefSeq": { "hgvs": "NM_032043.3:c.2448G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000259008.2:p.Trp816Ter" }, "RefSeq": { "hgvs": "NP_114432.2:p.Trp816Ter" } } } } ], "type": "nucleotide" }