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"http://reg.genome.network/refseq/RS829719" }, { "coordinates": [ { "allele": "G", "end": 2386, "referenceAllele": "T", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000259008.7:c.2111T>G" ], "proteinEffect": { "hgvs": "ENSP00000259008.2:p.Leu704Ter", "hgvsWellDefined": "ENSP00000259008.2:p.Leu704_Lys1249delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741952", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000259008.7:c.2111T>G" }, "RefSeq": { "hgvs": "NM_032043.3:c.2111T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000259008.2:p.Leu704Ter" }, "RefSeq": { "hgvs": "NP_114432.2:p.Leu704Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 2379, "referenceAllele": "T", "start": 2378 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000259008.6:c.2111T>G" ], "proteinEffect": { "hgvs": "ENSP00000259008.2:p.Leu704Ter", "hgvsWellDefined": "ENSP00000259008.2:p.Leu704_Lys1249delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250448" }, { "coordinates": [ { "allele": "G", "end": 2111, "referenceAllele": "T", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000577598.5:c.2111T>G" ], "proteinEffect": { "hgvs": "ENSP00000464654.1:p.Leu704Ter", "hgvsWellDefined": "ENSP00000464654.1:p.Leu704_Val994delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysSerMetLysSerSerSerHisLeuProLeuIleGluLysSerPheIleIlePheSerGluMetIlePheIleTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384945" }, { "coordinates": [ { "allele": "G", "end": 94, "referenceAllele": "T", "start": 93 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000584322.1:c.94T>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS388160" }, { "@id": "http://reg.genome.network/allele/PA645509944", "coordinates": [ { "allele": "G", "end": 2417, "referenceAllele": "T", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "NM_032043.2:c.2111T>G", "LRG_300t1:c.2111T>G" ], "proteinEffect": { "hgvs": "NP_114432.2:p.Leu704Ter", "hgvsWellDefined": "NP_114432.2:p.Leu704_Lys1249delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038811" }, { "coordinates": [ { "allele": "G", "end": 2855, "referenceAllele": "T", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525332.1:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523634.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523634.1:p.Leu724_Lys1269delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092451" }, { "coordinates": [ { "allele": "G", "end": 2851, "referenceAllele": "T", "start": 2850 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525333.1:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523635.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523635.1:p.Leu724_Lys1269delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092452" }, { "coordinates": [ { "allele": "G", "end": 2760, "referenceAllele": "T", "start": 2759 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525334.1:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523636.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523636.1:p.Leu724_Lys1269delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092453" }, { "coordinates": [ { "allele": "G", "end": 2795, "referenceAllele": "T", "start": 2794 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.1:c.2111T>G" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Leu704Ter", "hgvsWellDefined": "XP_011523637.1:p.Leu704_Lys1249delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092454" }, { "coordinates": [ { "allele": "G", "end": 2735, "referenceAllele": "T", "start": 2734 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.1:c.2051T>G" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Leu684Ter", "hgvsWellDefined": "XP_011523638.1:p.Leu684_Lys1229delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092455" }, { "coordinates": [ { "allele": "G", "end": 2654, "referenceAllele": "T", "start": 2653 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.1:c.1970T>G" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Leu657Ter", "hgvsWellDefined": "XP_011523639.1:p.Leu657_Lys1202delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092456" }, { "coordinates": [ { "allele": "G", "end": 1790, "referenceAllele": "T", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.1:c.1688T>G" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Leu563Ter", "hgvsWellDefined": "XP_011523640.1:p.Leu563_Lys1108delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092457" }, { "coordinates": [ { "allele": "G", "end": 2855, "referenceAllele": "T", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.1:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523641.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523641.1:p.Leu724_Tyr872delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092458" }, { "coordinates": [ { "allele": "G", "end": 2855, "referenceAllele": "T", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.1:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523642.1:p.Leu724_Phe853delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092459" }, { "coordinates": [ { "allele": "G", "end": 2909, "referenceAllele": "T", "start": 2908 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525332.3:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523634.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523634.1:p.Leu724_Lys1269delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547837" }, { "coordinates": [ { "allele": "G", "end": 2906, "referenceAllele": "T", "start": 2905 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525333.3:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523635.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523635.1:p.Leu724_Lys1269delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547838" }, { "coordinates": [ { "allele": "G", "end": 3565, "referenceAllele": "T", "start": 3564 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525334.2:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523636.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523636.1:p.Leu724_Lys1269delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547839" }, { "coordinates": [ { "allele": "G", "end": 2849, "referenceAllele": "T", "start": 2848 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.3:c.2111T>G" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Leu704Ter", "hgvsWellDefined": "XP_011523637.1:p.Leu704_Lys1249delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547840" }, { "coordinates": [ { "allele": "G", "end": 2786, "referenceAllele": "T", "start": 2785 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.2:c.2051T>G" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Leu684Ter", "hgvsWellDefined": "XP_011523638.1:p.Leu684_Lys1229delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547841" }, { "coordinates": [ { "allele": "G", "end": 2705, "referenceAllele": "T", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.2:c.1970T>G" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Leu657Ter", "hgvsWellDefined": "XP_011523639.1:p.Leu657_Lys1202delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547842" }, { "coordinates": [ { "allele": "G", "end": 1785, "referenceAllele": "T", "start": 1784 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.2:c.1688T>G" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Leu563Ter", "hgvsWellDefined": "XP_011523640.1:p.Leu563_Lys1108delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547843" }, { "coordinates": [ { "allele": "G", "end": 3038, "referenceAllele": "T", "start": 3037 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.3:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523641.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523641.1:p.Leu724_Tyr872delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547844" }, { "coordinates": [ { "allele": "G", "end": 3034, "referenceAllele": "T", "start": 3033 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.3:c.2171T>G" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Leu724Ter", "hgvsWellDefined": "XP_011523642.1:p.Leu724_Phe853delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547845" }, { "coordinates": [ { "allele": "G", "end": 1725, "referenceAllele": "T", "start": 1724 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025200.1:c.1628T>G" ], "proteinEffect": { "hgvs": "XP_016880689.1:p.Leu543Ter", "hgvsWellDefined": "XP_016880689.1:p.Leu543_Lys1088delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575589" }, { "coordinates": [ { "allele": "G", "end": 2490, "referenceAllele": "T", "start": 2489 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025201.1:c.1628T>G" ], "proteinEffect": { "hgvs": "XP_016880690.1:p.Leu543Ter", "hgvsWellDefined": "XP_016880690.1:p.Leu543_Lys1088delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575590" }, { "coordinates": [ { "allele": "G", "end": 853, "referenceAllele": "T", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025202.1:c.257T>G" ], "proteinEffect": { "hgvs": "XP_016880691.1:p.Leu86Ter", "hgvsWellDefined": "XP_016880691.1:p.Leu86_Lys631delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575591" }, { "coordinates": [ { "allele": "G", "end": 365, "referenceAllele": "T", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025203.1:c.257T>G" ], "proteinEffect": { "hgvs": "XP_016880692.1:p.Leu86Ter", "hgvsWellDefined": "XP_016880692.1:p.Leu86_Lys631delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575592" }, { "@id": "http://reg.genome.network/allele/PA645509944", "coordinates": [ { "allele": "G", "end": 2386, "referenceAllele": "T", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "NM_032043.3:c.2111T>G" ], "proteinEffect": { "hgvs": "NP_114432.2:p.Leu704Ter", "hgvsWellDefined": "NP_114432.2:p.Leu704_Lys1249delinsLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000259008.7:c.2111T>G" }, "RefSeq": { "hgvs": "NM_032043.3:c.2111T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000259008.2:p.Leu704Ter" }, "RefSeq": { "hgvs": "NP_114432.2:p.Leu704Ter" } } } } ], "type": "nucleotide" }