{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA288517", "communityStandardTitle": [ "NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133613[alleleid]", "alleleId": 133613, "preferredName": "NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128156", "RCV": [ "RCV000116123", "RCV000212309", "RCV000473135", "RCV000663293", "RCV000781186", "RCV001781450" ], "variationId": 128156 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-59871059-C-A", "id": "17-59871059-C-A", "variant": "17:59871059 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.59871059C>A?assembly=hg19", "id": "chr17:g.59871059C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.61793698C>A?assembly=hg38", "id": "chr17:g.61793698C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587780228", "rs": 587780228 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-59871059-C-A?dataset=gnomad_r2_1", "id": "17-59871059-C-A", "variant": "17:59871059 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-61793698-C-A?dataset=gnomad_r3", "id": "17-61793698-C-A", "variant": "17:61793698 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-61793698-C-A?dataset=gnomad_r4", "id": "17-61793698-C-A", "variant": "17:61793698 C / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 61793698, "referenceAllele": "C", "start": 61793697 } ], "hgvs": [ "NC_000017.11:g.61793698C>A", "CM000679.2:g.61793698C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 59871059, "referenceAllele": "C", "start": 59871058 } ], "hgvs": [ "NC_000017.10:g.59871059C>A", "CM000679.1:g.59871059C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 57225841, "referenceAllele": "C", "start": 57225840 } ], "hgvs": [ "NC_000017.9:g.57225841C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 74862, "referenceAllele": "G", "start": 74861 } ], "hgvs": [ "NG_007409.2:g.74862G>T", "LRG_300:g.74862G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000572" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000579028.2:c.865G>T" ], "proteinEffect": { "hgvs": "ENSP00000463827.2:p.Glu289Ter", "hgvsWellDefined": "ENSP00000463827.2:p.Glu289_Cys380delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgAspGluIleSerLeuCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826199" }, { "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "G", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000584322.2:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000463272.2:p.Glu458Ter", "hgvsWellDefined": "ENSP00000463272.2:p.Glu458_Tyr852delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS826229" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682066.1:c.865G>T" ], "proteinEffect": { "hgvs": "ENSP00000507191.1:p.Glu289Ter", "hgvsWellDefined": "ENSP00000507191.1:p.Glu289_Thr533delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysTyrLeuThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827064" }, { "coordinates": [ { "allele": "T", "end": 1485, "referenceAllele": "G", "start": 1484 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682453.1:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000506943.1:p.Glu458Ter", "hgvsWellDefined": "ENSP00000506943.1:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827443" }, { "coordinates": [ { "allele": "T", "end": 2390, "referenceAllele": "G", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682477.1:c.*798G>T" ], "proteinEffect": { "hgvs": "ENSP00000507075.1:n.*798G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827467" }, { "coordinates": [ { "allele": "T", "end": 3113, "referenceAllele": "G", "start": 3112 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682589.1:n.3113G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827579" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682611.1:c.865G>T" ], "proteinEffect": { "hgvs": "ENSP00000508326.1:p.Glu289Ter", "hgvsWellDefined": "ENSP00000508326.1:p.Glu289_Gln488delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnSerValProAlaGluLysCysAspTyrGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827600" }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "G", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682755.1:c.1150G>T" ], "proteinEffect": { "hgvs": "ENSP00000507660.1:p.Glu384Ter", "hgvsWellDefined": "ENSP00000507660.1:p.Glu384_Lys1175delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827744" }, { "coordinates": [ { "allele": "T", "end": 1615, "referenceAllele": "G", "start": 1614 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000682989.1:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000507786.1:p.Glu458Ter", "hgvsWellDefined": "ENSP00000507786.1:p.Glu458_Arg870delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgSerHisSerValAlaHisValGlyValGlnTrpTyrAsnLeuSerSerLeuGlnProArgLeuProGlyPheLysGlyPheSerHisLeuSerLeuProSerAsnTrpAspHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827976" }, { "coordinates": [ { "allele": "T", "end": 1694, "referenceAllele": "G", "start": 1693 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000683039.1:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000508303.1:p.Glu458Ter", "hgvsWellDefined": "ENSP00000508303.1:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828026" }, { "coordinates": [ { "allele": "T", "end": 1625, "referenceAllele": "G", "start": 1624 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000683235.1:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000507646.1:p.Glu458Ter", "hgvsWellDefined": "ENSP00000507646.1:p.Glu458_Phe833delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828217" }, { "coordinates": [ { "allele": "T", "end": 1528, "referenceAllele": "G", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000683381.1:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000508184.1:p.Glu458Ter", "hgvsWellDefined": "ENSP00000508184.1:p.Glu458_Tyr872delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828360" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000684584.1:c.865G>T" ], "proteinEffect": { "hgvs": "ENSP00000508044.1:p.Glu289Ter", "hgvsWellDefined": "ENSP00000508044.1:p.Glu289_Lys970delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerAspAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829536" }, { "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "G", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000259008.7:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000259008.2:p.Glu458Ter", "hgvsWellDefined": "ENSP00000259008.2:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741952", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000259008.7:c.1372G>T" }, "RefSeq": { "hgvs": "NM_032043.3:c.1372G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000259008.2:p.Glu458Ter" }, "RefSeq": { "hgvs": "NP_114432.2:p.Glu458Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "G", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000259008.6:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000259008.2:p.Glu458Ter", "hgvsWellDefined": "ENSP00000259008.2:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250448" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "ENST00000577598.5:c.1372G>T" ], "proteinEffect": { "hgvs": "ENSP00000464654.1:p.Glu458Ter", "hgvsWellDefined": "ENSP00000464654.1:p.Glu458_Val994delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysSerMetLysSerSerSerHisLeuProLeuIleGluLysSerPheIleIlePheSerGluMetIlePheIleTrpValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384945" }, { "@id": "http://reg.genome.network/allele/PA288519", "coordinates": [ { "allele": "T", "end": 1678, "referenceAllele": "G", "start": 1677 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "NM_032043.2:c.1372G>T", "LRG_300t1:c.1372G>T" ], "proteinEffect": { "hgvs": "NP_114432.2:p.Glu458Ter", "hgvsWellDefined": "NP_114432.2:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS038811" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525332.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523634.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523634.1:p.Glu458_Lys1269delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092451" }, { "coordinates": [ { "allele": "T", "end": 2052, "referenceAllele": "G", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525333.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523635.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523635.1:p.Glu458_Lys1269delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092452" }, { "coordinates": [ { "allele": "T", "end": 1961, "referenceAllele": "G", "start": 1960 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525334.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523636.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523636.1:p.Glu458_Lys1269delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092453" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523637.1:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092454" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523638.1:p.Glu458_Lys1229delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092455" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523639.1:p.Glu458_Lys1202delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092456" }, { "coordinates": [ { "allele": "T", "end": 991, "referenceAllele": "G", "start": 990 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.1:c.889G>T" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Glu297Ter", "hgvsWellDefined": "XP_011523640.1:p.Glu297_Lys1108delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092457" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523641.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523641.1:p.Glu458_Tyr872delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092458" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523642.1:p.Glu458_Phe853delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092459" }, { "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "G", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525341.1:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523643.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523643.1:p.Glu458_Gln657delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnSerValProAlaGluLysCysAspTyrGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092460" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "G", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525332.3:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523634.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523634.1:p.Glu458_Lys1269delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547837" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525333.3:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523635.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523635.1:p.Glu458_Lys1269delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547838" }, { "coordinates": [ { "allele": "T", "end": 2766, "referenceAllele": "G", "start": 2765 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525334.2:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523636.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523636.1:p.Glu458_Lys1269delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547839" }, { "coordinates": [ { "allele": "T", "end": 2110, "referenceAllele": "G", "start": 2109 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525335.3:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523637.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523637.1:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547840" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525336.2:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523638.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523638.1:p.Glu458_Lys1229delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547841" }, { "coordinates": [ { "allele": "T", "end": 2107, "referenceAllele": "G", "start": 2106 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525337.2:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523639.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523639.1:p.Glu458_Lys1202delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547842" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "G", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525338.2:c.889G>T" ], "proteinEffect": { "hgvs": "XP_011523640.1:p.Glu297Ter", "hgvsWellDefined": "XP_011523640.1:p.Glu297_Lys1108delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547843" }, { "coordinates": [ { "allele": "T", "end": 2239, "referenceAllele": "G", "start": 2238 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525339.3:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523641.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523641.1:p.Glu458_Tyr872delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnLeuThrSerAlaThrAlaGluGlyThrAsnGlyTyrAlaGlnSerTrpValSerTyrSerLysMetAlaAspAlaAlaLeuThrThrAlaThrAspGluThrValAspIleTyrProArgAsnLeuLeuSerProSerThrAlaLeuValLeuHisSerThrGluValGluCysTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547844" }, { "coordinates": [ { "allele": "T", "end": 2235, "referenceAllele": "G", "start": 2234 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525340.3:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523642.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523642.1:p.Glu458_Phe853delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgThrPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547845" }, { "coordinates": [ { "allele": "T", "end": 2109, "referenceAllele": "G", "start": 2108 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_011525341.3:c.1372G>T" ], "proteinEffect": { "hgvs": "XP_011523643.1:p.Glu458Ter", "hgvsWellDefined": "XP_011523643.1:p.Glu458_Gln657delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnSerValProAlaGluLysCysAspTyrGluGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547846" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "G", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025200.1:c.889G>T" ], "proteinEffect": { "hgvs": "XP_016880689.1:p.Glu297Ter", "hgvsWellDefined": "XP_016880689.1:p.Glu297_Lys1088delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575589" }, { "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "XM_017025201.1:c.829G>T" ], "proteinEffect": { "hgvs": "XP_016880690.1:p.Glu277Ter", "hgvsWellDefined": "XP_016880690.1:p.Glu277_Lys1088delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnIleMetSerSerLysPheIleIleTyrValValAlaCysAlaArgValSerSerLeuLysValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575590" }, { "@id": "http://reg.genome.network/allele/PA288519", "coordinates": [ { "allele": "T", "end": 1647, "referenceAllele": "G", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN020473", "geneNCBI_id": 83990, "geneSymbol": "BRIP1", "hgvs": [ "NM_032043.3:c.1372G>T" ], "proteinEffect": { "hgvs": "NP_114432.2:p.Glu458Ter", "hgvsWellDefined": "NP_114432.2:p.Glu458_Lys1249delinsArgAspTyrGluSerAlaCysLysIleTrpSerGlyAsnGluMetLeuLeuThrLeuHisLysMetGlyIleThrThrAlaThrPheProIleLeuGlnGlyHisPheSerAlaValLeuGlnLysGluGluLysIleSerProIleTyrGlyLysGluGluAlaArgGluValProValIleSerAlaSerThrGlnIleMetLeuLysGlyLeuPheMetValLeuAspTyrLeuPheArgGlnAsnSerArgPheAlaAspAspTyrLysIleAlaIleGlnGlnThrTyrSerTrpThrAsnGlnIleAspIleSerAspLysAsnGlyLeuLeuValLeuProLysAsnLysLysArgSerArgGlnLysThrAlaValHisValLeuAsnPheTrpCysLeuAsnProAlaValAlaPheSerAspIleAsnGlyLysValGlnThrIleValLeuThrSerGlyThrLeuSerProMetLysSerPheSerSerGluLeuGlyValThrPheThrIleGlnLeuGluAlaAsnHisIleIleLysAsnSerGlnValTrpValGlyThrIleGlySerGlyProLysGlyArgAsnLeuCysAlaThrPheGlnAsnThrGluThrPheGluPheGlnAspGluValGlyAlaLeuLeuLeuSerValCysGlnThrValSerGlnGlyIleLeuCysPheLeuProSerTyrLysLeuLeuGluLysLeuLysGluArgTrpLeuSerThrGlyLeuTrpHisAsnLeuGluLeuValLysThrValIleValGluProGlnGlyGlyGluLysThrAsnPheAspGluLeuLeuGlnValTyrTyrAspAlaIleLysTyrLysGlyGluLysAspGlyAlaLeuLeuValAlaValCysArgGlyLysValSerGluGlyLeuAspPheSerAspAspAsnAlaArgAlaValIleThrIleGlyIleProPheProAsnValLysAspLeuGlnValGluLeuLysArgGlnTyrAsnAspHisHisSerLysLeuArgGlyLeuLeuProGlyArgGlnTrpTyrGluIleGlnAlaTyrArgAlaLeuAsnGlnAlaLeuGlyArgCysIleArgHisArgAsnAspTrpGlyAlaLeuIleLeuValAspAspArgPheArgAsnAsnProSerArgTyrIleSerGlyLeuSerLysTrpValArgGlnGlnIleGlnHisHisSerThrPheGluSerAlaLeuGluSerLeuAlaGluPheSerLysLysHisGlnLysValLeuAsnValSerIleLysAspArgThrAsnIleGlnAspAsnGluSerThrLeuGluValThrSerLeuLysTyrSerThrSerProTyrLeuLeuGluAlaAlaSerHisLeuSerProGluAsnPheValGluAspGluAlaLysIleCysValGlnGluLeuGlnCysProLysIleIleThrLysAsnSerProLeuProSerSerIleIleSerArgLysGluLysAsnAspProValPheLeuGluGluAlaGlyLysAlaGluLysIleValIleSerArgSerThrSerProThrPheAsnLysGlnThrLysArgValSerTrpSerSerPheAsnSerLeuGlyGlnTyrPheThrGlyLysIleProLysAlaThrProGluLeuGlySerSerGluAsnSerAlaSerSerProProArgPheLysThrGluLysMetGluSerLysThrValLeuProPheThrAspLysCysGluSerSerAsnLeuThrValAsnThrSerPheGlySerCysProGlnSerGluThrIleIleSerSerLeuLysIleAspAlaThrLeuThrArgLysAsnHisSerGluHisProLeuCysSerGluGluAlaLeuAspProAspIleGluLeuSerLeuValSerGluGluAspLysGlnSerThrSerAsnArgAspPheGluThrGluAlaGluAspGluSerIleTyrPheThrProGluLeuTyrAspProGluAspThrAspGluGluLysAsnAspLeuAlaGluThrAspArgGlyAsnArgLeuAlaAsnAsnSerAspCysIleLeuAlaLysAspLeuPheGluIleArgThrIleLysGluValAspSerAlaArgGluValLysAlaGluAspCysIleAspThrLysLeuAsnGlyIleLeuHisIleGluGluSerLysIleAspAspIleAspGlyAsnValLysThrThrTrpIleAsnGluLeuGluLeuGlyLysThrHisGluIleGluIleLysAsnPheLysProSerProSerLysAsnLysGlyMetPheProGlyPheLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699014", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000259008.7:c.1372G>T" }, "RefSeq": { "hgvs": "NM_032043.3:c.1372G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000259008.2:p.Glu458Ter" }, "RefSeq": { "hgvs": "NP_114432.2:p.Glu458Ter" } } } } ], "type": "nucleotide" }