{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA165277", "communityStandardTitle": [ "NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151096[alleleid]", "alleleId": 151096, "preferredName": "NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141382", "RCV": [ "RCV000129878", "RCV000445256", "RCV000409609", "RCV000411128", "RCV000701846", "RCV000781179", "RCV003335116" ], "variationId": 141382 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-59876561-G-A", "id": "17-59876561-G-A", "variant": "17:59876561 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.59876561G>A?assembly=hg19", "id": "chr17:g.59876561G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.61799200G>A?assembly=hg38", "id": "chr17:g.61799200G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/368796923", "rs": 368796923 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-59876561-G-A?dataset=gnomad_r2_1", "id": "17-59876561-G-A", "variant": "17:59876561 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-61799200-G-A?dataset=gnomad_r3", "id": "17-61799200-G-A", "variant": "17:61799200 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-61799200-G-A?dataset=gnomad_r4", "id": "17-61799200-G-A", "variant": "17:61799200 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 61799200, "referenceAllele": "G", "start": 61799199 } ], "hgvs": [ "NC_000017.11:g.61799200G>A", "CM000679.2:g.61799200G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 59876561, "referenceAllele": "G", "start": 59876560 } ], "hgvs": [ "NC_000017.10:g.59876561G>A", "CM000679.1:g.59876561G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 57231343, "referenceAllele": "G", "start": 57231342 } ], "hgvs": [ "NC_000017.9:g.57231343G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 69360, "referenceAllele": "C", "start": 69359 } ], "hgvs": [ "NG_007409.2:g.69360C>T", "LRG_300:g.69360C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000572" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000579028.2:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000463827.2:p.Gln245Ter", "hgvsWellDefined": "ENSP00000463827.2:p.Gln245_Cys380delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgAspGluIleSerLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826199" }, { "coordinates": [ { "allele": "T", "end": 1314, "referenceAllele": "C", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000584322.2:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000463272.2:p.Gln414Ter", "hgvsWellDefined": "ENSP00000463272.2:p.Gln414_Tyr852delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826229" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682066.1:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000507191.1:p.Gln245Ter", "hgvsWellDefined": "ENSP00000507191.1:p.Gln245_Thr533delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysTyrLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827064" }, { "coordinates": [ { "allele": "T", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682453.1:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000506943.1:p.Gln414Ter", "hgvsWellDefined": "ENSP00000506943.1:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827443" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "C", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682477.1:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000507075.1:p.Gln414Ter", "hgvsWellDefined": "ENSP00000507075.1:p.Gln414_Gln460delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleLysCysHisGluHisAlaLeuArgGluArgGlnSerLeuGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827467" }, { "coordinates": [ { "allele": "T", "end": 2981, "referenceAllele": "C", "start": 2980 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682589.1:n.2981C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827579" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682611.1:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000508326.1:p.Gln245Ter", "hgvsWellDefined": "ENSP00000508326.1:p.Gln245_Gln488delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnSerValProAlaGluLysCysAspTyrGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827600" }, { "coordinates": [ { "allele": "T", "end": 1048, "referenceAllele": "C", "start": 1047 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682755.1:c.1018C>T" ], "proteinEffect": { "hgvs": "ENSP00000507660.1:p.Gln340Ter", "hgvsWellDefined": "ENSP00000507660.1:p.Gln340_Lys1175delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827744" }, { "coordinates": [ { "allele": "T", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682989.1:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000507786.1:p.Gln414Ter", "hgvsWellDefined": "ENSP00000507786.1:p.Gln414_Arg870delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgSerHisSerValAlaHisValGlyValGlnTrpTyrAsnLeuSerSerLeuGlnProArgLeuProGlyPheLysGlyPheSerHisLeuSerLeuProSerAsnTrpAspHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827976" }, { "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "C", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000683039.1:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000508303.1:p.Gln414Ter", "hgvsWellDefined": "ENSP00000508303.1:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828026" }, { "coordinates": [ { "allele": "T", "end": 1493, "referenceAllele": "C", "start": 1492 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000683235.1:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000507646.1:p.Gln414Ter", "hgvsWellDefined": "ENSP00000507646.1:p.Gln414_Phe833delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828217" }, { "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "C", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000683381.1:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000508184.1:p.Gln414Ter", "hgvsWellDefined": "ENSP00000508184.1:p.Gln414_Tyr872delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828360" }, { "coordinates": [ { "allele": "T", "end": 818, "referenceAllele": "C", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000683692.1:c.818C>T" ], "proteinEffect": { "hgvs": "ENSP00000507964.1:n.818C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828663" }, { "coordinates": [ { "allele": "T", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000684584.1:c.733C>T" ], "proteinEffect": { "hgvs": "ENSP00000508044.1:p.Gln245Ter", "hgvsWellDefined": "ENSP00000508044.1:p.Gln245_Lys970delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerAspAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829536" }, { "coordinates": [ { "allele": "T", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000259008.7:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000259008.2:p.Gln414Ter", "hgvsWellDefined": "ENSP00000259008.2:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741952", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000259008.7:c.1240C>T" }, "RefSeq": { "hgvs": "NM_032043.3:c.1240C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000259008.2:p.Gln414Ter" }, "RefSeq": { "hgvs": "NP_114432.2:p.Gln414Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1508, "referenceAllele": "C", "start": 1507 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000259008.6:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000259008.2:p.Gln414Ter", "hgvsWellDefined": "ENSP00000259008.2:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250448" }, { "coordinates": [ { "allele": "T", "end": 1240, "referenceAllele": "C", "start": 1239 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000577598.5:c.1240C>T" ], "proteinEffect": { "hgvs": "ENSP00000464654.1:p.Gln414Ter", "hgvsWellDefined": "ENSP00000464654.1:p.Gln414_Val994delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysSerMetLysSerSerSerHisLeuProLeuIleGluLysSerPheIleIlePheSerGluMetIlePheIleTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384945" }, { "@id": "http://reg.genome.network/allele/PA165279", "coordinates": [ { "allele": "T", "end": 1546, "referenceAllele": "C", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "NM_032043.2:c.1240C>T", "LRG_300t1:c.1240C>T" ], "proteinEffect": { "hgvs": "NP_114432.2:p.Gln414Ter", "hgvsWellDefined": "NP_114432.2:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038811" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525332.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523634.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523634.1:p.Gln414_Lys1269delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092451" }, { "coordinates": [ { "allele": "T", "end": 1920, "referenceAllele": "C", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525333.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523635.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523635.1:p.Gln414_Lys1269delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092452" }, { "coordinates": [ { "allele": "T", "end": 1829, "referenceAllele": "C", "start": 1828 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525334.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523636.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523636.1:p.Gln414_Lys1269delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092453" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523637.1:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092454" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523638.1:p.Gln414_Lys1229delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092455" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523639.1:p.Gln414_Lys1202delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092456" }, { "coordinates": [ { "allele": "T", "end": 859, "referenceAllele": "C", "start": 858 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.1:c.757C>T" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Gln253Ter", "hgvsWellDefined": "XP_011523640.1:p.Gln253_Lys1108delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092457" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523641.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523641.1:p.Gln414_Tyr872delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092458" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523642.1:p.Gln414_Phe853delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092459" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525341.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523643.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523643.1:p.Gln414_Gln657delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnSerValProAlaGluLysCysAspTyrGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092460" }, { "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525332.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523634.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523634.1:p.Gln414_Lys1269delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547837" }, { "coordinates": [ { "allele": "T", "end": 1975, "referenceAllele": "C", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525333.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523635.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523635.1:p.Gln414_Lys1269delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547838" }, { "coordinates": [ { "allele": "T", "end": 2634, "referenceAllele": "C", "start": 2633 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525334.2:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523636.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523636.1:p.Gln414_Lys1269delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547839" }, { "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523637.1:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547840" }, { "coordinates": [ { "allele": "T", "end": 1975, "referenceAllele": "C", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.2:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523638.1:p.Gln414_Lys1229delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547841" }, { "coordinates": [ { "allele": "T", "end": 1975, "referenceAllele": "C", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.2:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523639.1:p.Gln414_Lys1202delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547842" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.2:c.757C>T" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Gln253Ter", "hgvsWellDefined": "XP_011523640.1:p.Gln253_Lys1108delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547843" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "C", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523641.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523641.1:p.Gln414_Tyr872delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547844" }, { "coordinates": [ { "allele": "T", "end": 2103, "referenceAllele": "C", "start": 2102 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523642.1:p.Gln414_Phe853delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547845" }, { "coordinates": [ { "allele": "T", "end": 1977, "referenceAllele": "C", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525341.3:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_011523643.1:p.Gln414Ter", "hgvsWellDefined": "XP_011523643.1:p.Gln414_Gln657delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnSerValProAlaGluLysCysAspTyrGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547846" }, { "coordinates": [ { "allele": "T", "end": 854, "referenceAllele": "C", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025200.1:c.757C>T" ], "proteinEffect": { "hgvs": "XP_016880689.1:p.Gln253Ter", "hgvsWellDefined": "XP_016880689.1:p.Gln253_Lys1088delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575589" }, { "coordinates": [ { "allele": "T", "end": 1559, "referenceAllele": "C", "start": 1558 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025201.1:c.697C>T" ], "proteinEffect": { "hgvs": "XP_016880690.1:p.Gln233Ter", "hgvsWellDefined": "XP_016880690.1:p.Gln233_Lys1088delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575590" }, { "@id": "http://reg.genome.network/allele/PA165279", "coordinates": [ { "allele": "T", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "NM_032043.3:c.1240C>T" ], "proteinEffect": { "hgvs": "NP_114432.2:p.Gln414Ter", "hgvsWellDefined": "NP_114432.2:p.Gln414_Lys1249delinsLeuArgPheAlaArgAspGluLeuAspSerMetValAsnAsnAsnIleArgLysLysAspHisGluProLeuArgAlaValCysCysSerLeuIleAsnTrpLeuGluAlaAsnAlaGluTyrLeuValGluArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000259008.7:c.1240C>T" }, "RefSeq": { "hgvs": "NM_032043.3:c.1240C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000259008.2:p.Gln414Ter" }, "RefSeq": { "hgvs": "NP_114432.2:p.Gln414Ter" } } } } ], "type": "nucleotide" }