{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA397717265", "communityStandardTitle": [ "NM_001321075.3(DLG4):c.796C>T (p.Gln266Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2473171[alleleid]", "alleleId": 2473171, "preferredName": "NM_001321075.3(DLG4):c.796C>T (p.Gln266Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2498089", "RCV": [ "RCV003219150" ], "variationId": 2498089 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7100363G>A?assembly=hg19", "id": "chr17:g.7100363G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.7197044G>A?assembly=hg38", "id": "chr17:g.7197044G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2507947636", "rs": 2507947636 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7197044, "referenceAllele": "G", "start": 7197043 } ], "hgvs": [ "NC_000017.11:g.7197044G>A", "CM000679.2:g.7197044G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7100363, "referenceAllele": "G", "start": 7100362 } ], "hgvs": [ "NC_000017.10:g.7100363G>A", "CM000679.1:g.7100363G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 7041087, "referenceAllele": "G", "start": 7041086 } ], "hgvs": [ "NC_000017.9:g.7041087G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 28007, "referenceAllele": "C", "start": 28006 } ], "hgvs": [ "NG_008391.2:g.28007C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001073" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000648103.2:n.1056C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826767" }, { "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000302955.11:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000307471.6:p.Gln263Ter", "hgvsWellDefined": "ENSP00000307471.6:p.Gln263_Leu721delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744993" }, { "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000399506.9:c.796C>T" ], "proteinEffect": { "hgvs": "ENSP00000382425.2:p.Gln266Ter", "hgvsWellDefined": "ENSP00000382425.2:p.Gln266_Leu724delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753848", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000399506.9:c.796C>T" }, "RefSeq": { "hgvs": "NM_001321075.3:c.796C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382425.2:p.Gln266Ter" }, "RefSeq": { "hgvs": "NP_001308004.1:p.Gln266Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1903, "referenceAllele": "C", "start": 1902 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000399510.8:c.916C>T" ], "proteinEffect": { "hgvs": "ENSP00000382428.3:p.Gln306Ter", "hgvsWellDefined": "ENSP00000382428.3:p.Gln306_Leu764delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753849" }, { "coordinates": [ { "allele": "T", "end": 757, "referenceAllele": "C", "start": 756 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000451807.7:c.712C>T" ], "proteinEffect": { "hgvs": "ENSP00000407918.3:p.Gln238Ter", "hgvsWellDefined": "ENSP00000407918.3:p.Gln238Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS756354" }, { "coordinates": [ { "allele": "T", "end": 1814, "referenceAllele": "C", "start": 1813 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000491753.2:c.925C>T" ], "proteinEffect": { "hgvs": "ENSP00000467897.2:p.Gln309Ter", "hgvsWellDefined": "ENSP00000467897.2:p.Gln309_Asp667delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnArgAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS757686" }, { "coordinates": [ { "allele": "T", "end": 1917, "referenceAllele": "C", "start": 1916 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000648172.8:c.925C>T" ], "proteinEffect": { "hgvs": "ENSP00000497806.3:p.Gln309Ter", "hgvsWellDefined": "ENSP00000497806.3:p.Gln309_Leu767delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769829" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000648263.1:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000498035.1:p.Gln206Ter", "hgvsWellDefined": "ENSP00000498035.1:p.Gln206Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769871" }, { "coordinates": [ { "allele": "T", "end": 831, "referenceAllele": "C", "start": 830 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000648707.1:n.831C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770128" }, { "coordinates": [ { "allele": "T", "end": 977, "referenceAllele": "C", "start": 976 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000648896.1:c.895C>T" ], "proteinEffect": { "hgvs": "ENSP00000497546.1:p.Gln299Ter", "hgvsWellDefined": "ENSP00000497546.1:p.Gln299_Leu757delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770243" }, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "C", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000649186.1:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000497879.1:p.Gln206Ter", "hgvsWellDefined": "ENSP00000497879.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770395" }, { "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000649520.1:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000497647.1:p.Gln206Ter", "hgvsWellDefined": "ENSP00000497647.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770585" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000649971.1:c.715C>T" ], "proteinEffect": { "hgvs": "ENSP00000497011.1:p.Gln239Ter", "hgvsWellDefined": "ENSP00000497011.1:p.Gln239_Leu697delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770870" }, { "coordinates": [ { "allele": "T", "end": 856, "referenceAllele": "C", "start": 855 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000650120.1:c.616C>T" ], "proteinEffect": { "hgvs": "ENSP00000497553.1:p.Gln206Ter", "hgvsWellDefined": "ENSP00000497553.1:p.Gln206_Ala587del" }, "referenceSequence": "http://reg.genome.network/refseq/RS770948" }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "C", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000302955.10:c.787C>T" ], "proteinEffect": { "hgvs": "ENSP00000307471.6:p.Gln263Ter", "hgvsWellDefined": "ENSP00000307471.6:p.Gln263_Leu721delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255254" }, { "coordinates": [ { "allele": "T", "end": 988, "referenceAllele": "C", "start": 987 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000399506.6:c.796C>T" ], "proteinEffect": { "hgvs": "ENSP00000382425.2:p.Gln266Ter", "hgvsWellDefined": "ENSP00000382425.2:p.Gln266_Leu724delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278703" }, { "coordinates": [ { "allele": "T", "end": 1778, "referenceAllele": "C", "start": 1777 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "ENST00000399510.6:c.925C>T" ], "proteinEffect": { "hgvs": "ENSP00000382428.2:p.Gln309Ter", "hgvsWellDefined": "ENSP00000382428.2:p.Gln309_Leu767delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS278704" }, { "@id": "http://reg.genome.network/allele/PA2825670455", "coordinates": [ { "allele": "T", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001128827.1:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001122299.1:p.Gln263Ter", "hgvsWellDefined": "NP_001122299.1:p.Gln263_Leu721delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011813" }, { "@id": "http://reg.genome.network/allele/PA2580218084", "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001365.3:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001356.1:p.Gln309Ter", "hgvsWellDefined": "NP_001356.1:p.Gln309_Leu767delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS026755" }, { "coordinates": [ { "allele": "T", "end": 1915, "referenceAllele": "C", "start": 1914 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_005256489.2:c.916C>T" ], "proteinEffect": { "hgvs": "XP_005256546.1:p.Gln306Ter", "hgvsWellDefined": "XP_005256546.1:p.Gln306_Leu764delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061336" }, { "coordinates": [ { "allele": "T", "end": 1368, "referenceAllele": "C", "start": 1367 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_005256491.1:c.886C>T" ], "proteinEffect": { "hgvs": "XP_005256548.1:p.Gln296Ter", "hgvsWellDefined": "XP_005256548.1:p.Gln296_Leu754delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061337" }, { "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_005256492.1:c.796C>T" ], "proteinEffect": { "hgvs": "XP_005256549.1:p.Gln266Ter", "hgvsWellDefined": "XP_005256549.1:p.Gln266_Leu724delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061338" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "C", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_005256493.3:c.616C>T" ], "proteinEffect": { "hgvs": "XP_005256550.1:p.Gln206Ter", "hgvsWellDefined": "XP_005256550.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061339" }, { "coordinates": [ { "allele": "T", "end": 1444, "referenceAllele": "C", "start": 1443 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_005256494.2:c.616C>T" ], "proteinEffect": { "hgvs": "XP_005256551.1:p.Gln206Ter", "hgvsWellDefined": "XP_005256551.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061340" }, { "coordinates": [ { "allele": "T", "end": 2014, "referenceAllele": "C", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_011523698.1:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_011522000.1:p.Gln339Ter", "hgvsWellDefined": "XP_011522000.1:p.Gln339_Leu797delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090831" }, { "coordinates": [ { "allele": "T", "end": 1258, "referenceAllele": "C", "start": 1257 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_011523699.1:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_011522001.1:p.Gln339Ter", "hgvsWellDefined": "XP_011522001.1:p.Gln339_Leu797delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090832" }, { "coordinates": [ { "allele": "T", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_011523700.1:c.808C>T" ], "proteinEffect": { "hgvs": "XP_011522002.1:p.Gln270Ter", "hgvsWellDefined": "XP_011522002.1:p.Gln270_Leu728delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090833" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_011523701.1:c.898C>T" ], "proteinEffect": { "hgvs": "XP_011522003.1:p.Gln300Ter", "hgvsWellDefined": "XP_011522003.1:p.Gln300_Leu758delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090834" }, { "coordinates": [ { "allele": "T", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_011523702.1:c.616C>T" ], "proteinEffect": { "hgvs": "XP_011522004.1:p.Gln206Ter", "hgvsWellDefined": "XP_011522004.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090835" }, { "coordinates": [ { "allele": "T", "end": 1924, "referenceAllele": "C", "start": 1923 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XR_243545.2:n.1924C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116554" }, { "coordinates": [ { "allele": "T", "end": 2014, "referenceAllele": "C", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XR_934005.1:n.2014C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS129451" }, { "@id": "http://reg.genome.network/allele/PA2825670455", "coordinates": [ { "allele": "T", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001128827.2:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001122299.1:p.Gln263Ter", "hgvsWellDefined": "NP_001122299.1:p.Gln263_Leu721delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511430" }, { "@id": "http://reg.genome.network/allele/PA2827071158", "coordinates": [ { "allele": "T", "end": 2117, "referenceAllele": "C", "start": 2116 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321074.1:c.916C>T" ], "proteinEffect": { "hgvs": "NP_001308003.1:p.Gln306Ter", "hgvsWellDefined": "NP_001308003.1:p.Gln306_Leu764delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514016" }, { "@id": "http://reg.genome.network/allele/PA2827071407", "coordinates": [ { "allele": "T", "end": 1278, "referenceAllele": "C", "start": 1277 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321075.1:c.796C>T" ], "proteinEffect": { "hgvs": "NP_001308004.1:p.Gln266Ter", "hgvsWellDefined": "NP_001308004.1:p.Gln266_Leu724delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514017" }, { "@id": "http://reg.genome.network/allele/PA2827071749", "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321076.1:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001308005.1:p.Gln206Ter", "hgvsWellDefined": "NP_001308005.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514018" }, { "@id": "http://reg.genome.network/allele/PA2827071982", "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "C", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321077.1:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001308006.1:p.Gln206Ter", "hgvsWellDefined": "NP_001308006.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514019" }, { "@id": "http://reg.genome.network/allele/PA2580218084", "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001365.4:c.925C>T" ], "proteinEffect": { "hgvs": "NP_001356.1:p.Gln309Ter", "hgvsWellDefined": "NP_001356.1:p.Gln309_Leu767delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523993" }, { "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NR_135527.1:n.2126C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS528286" }, { "coordinates": [ { "allele": "T", "end": 1256, "referenceAllele": "C", "start": 1255 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_011523699.2:c.1015C>T" ], "proteinEffect": { "hgvs": "XP_011522001.1:p.Gln339Ter", "hgvsWellDefined": "XP_011522001.1:p.Gln339_Leu797delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547129" }, { "coordinates": [ { "allele": "T", "end": 1204, "referenceAllele": "C", "start": 1203 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_017024288.2:c.730C>T" ], "proteinEffect": { "hgvs": "XP_016879777.1:p.Gln244Ter", "hgvsWellDefined": "XP_016879777.1:p.Gln244_Leu702delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574883" }, { "coordinates": [ { "allele": "T", "end": 1195, "referenceAllele": "C", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_017024289.2:c.721C>T" ], "proteinEffect": { "hgvs": "XP_016879778.1:p.Gln241Ter", "hgvsWellDefined": "XP_016879778.1:p.Gln241_Leu699delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574884" }, { "coordinates": [ { "allele": "T", "end": 1484, "referenceAllele": "C", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_017024290.2:c.715C>T" ], "proteinEffect": { "hgvs": "XP_016879779.1:p.Gln239Ter", "hgvsWellDefined": "XP_016879779.1:p.Gln239_Leu697delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574885" }, { "coordinates": [ { "allele": "T", "end": 790, "referenceAllele": "C", "start": 789 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XM_024450629.1:c.781C>T" ], "proteinEffect": { "hgvs": "XP_024306397.1:p.Gln261Ter", "hgvsWellDefined": "XP_024306397.1:p.Gln261_Leu719delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584163" }, { "coordinates": [ { "allele": "T", "end": 2008, "referenceAllele": "C", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "XR_934005.2:n.2008C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610562" }, { "@id": "http://reg.genome.network/allele/PA2825670455", "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001128827.3:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001122299.1:p.Gln263Ter", "hgvsWellDefined": "NP_001122299.1:p.Gln263_Leu721delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677007" }, { "@id": "http://reg.genome.network/allele/PA2827071407", "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321075.3:c.796C>T" ], "proteinEffect": { "hgvs": "NP_001308004.1:p.Gln266Ter", "hgvsWellDefined": "NP_001308004.1:p.Gln266_Leu724delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685179", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000399506.9:c.796C>T" }, "RefSeq": { "hgvs": "NM_001321075.3:c.796C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000382425.2:p.Gln266Ter" }, "RefSeq": { "hgvs": "NP_001308004.1:p.Gln266Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2827071749", "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321076.2:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001308005.1:p.Gln206Ter", "hgvsWellDefined": "NP_001308005.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685180" }, { "@id": "http://reg.genome.network/allele/PA2827071982", "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321077.2:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001308006.1:p.Gln206Ter", "hgvsWellDefined": "NP_001308006.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS685181" }, { "@id": "http://reg.genome.network/allele/PA2828343638", "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "C", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001369566.2:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001356495.1:p.Gln239Ter", "hgvsWellDefined": "NP_001356495.1:p.Gln239_Leu697delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691777" }, { "@id": "http://reg.genome.network/allele/PA2825670455", "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001128827.4:c.787C>T" ], "proteinEffect": { "hgvs": "NP_001122299.1:p.Gln263Ter", "hgvsWellDefined": "NP_001122299.1:p.Gln263_Leu721delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712263" }, { "@id": "http://reg.genome.network/allele/PA2827071749", "coordinates": [ { "allele": "T", "end": 942, "referenceAllele": "C", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321076.3:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001308005.1:p.Gln206Ter", "hgvsWellDefined": "NP_001308005.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717896" }, { "@id": "http://reg.genome.network/allele/PA2827071982", "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001321077.3:c.616C>T" ], "proteinEffect": { "hgvs": "NP_001308006.1:p.Gln206Ter", "hgvsWellDefined": "NP_001308006.1:p.Gln206_Leu664delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS717897" }, { "@id": "http://reg.genome.network/allele/PA2828343638", "coordinates": [ { "allele": "T", "end": 1032, "referenceAllele": "C", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN002903", "geneNCBI_id": 1742, "geneSymbol": "DLG4", "hgvs": [ "NM_001369566.3:c.715C>T" ], "proteinEffect": { "hgvs": "NP_001356495.1:p.Gln239Ter", "hgvsWellDefined": "NP_001356495.1:p.Gln239_Leu697delinsHisLeuAspAsnGluIleSerHisSerSerTyrLeuGlyThrAspTyrProThrAlaMetThrProThrSerProArgArgTyrSerProValAlaLysAspLeuLeuGlyGluGluAspIleProArgGluProArgArgIleValIleHisArgGlySerThrGlyLeuGlyPheAsnIleValGlyGlyGluAspGlyGluGlyIlePheIleSerPheIleLeuAlaGlyGlyProAlaAspLeuSerGlyGluLeuArgLysGlyAspGlnIleLeuSerValAsnGlyValAspLeuArgAsnAlaSerHisGluGlnAlaAlaIleAlaLeuLysAsnAlaGlyGlnThrValThrIleIleAlaGlnTyrLysProGluGluTyrSerArgPheGluAlaLysIleHisAspLeuArgGluGlnLeuMetAsnSerSerLeuGlySerGlyThrAlaSerLeuArgSerAsnProLysArgGlyPheTyrIleArgAlaLeuPheAspTyrAspLysThrLysAspCysGlyPheLeuSerGlnAlaLeuSerPheArgPheGlyAspValLeuHisValIleAspAlaSerAspGluGluTrpTrpGlnAlaArgArgValHisSerAspSerGluThrAspAspIleGlyPheIleProSerLysArgArgValGluArgArgGluTrpSerArgLeuLysAlaLysAspTrpGlySerSerSerGlySerGlnGlyArgGluAspSerValLeuSerTyrGluThrValThrGlnMetGluValHisTyrAlaArgProIleIleIleLeuGlyProThrLysAspArgAlaAsnAspAspLeuLeuSerGluPheProAspLysPheGlySerCysValProHisThrThrArgProLysArgGluTyrGluIleAspGlyArgAspTyrHisPheValSerSerArgGluLysMetGluLysAspIleGlnAlaHisLysPheIleGluAlaGlyGlnTyrAsnSerHisLeuTyrGlyThrSerValGlnSerValArgGluValAlaGluGlnGlyLysHisCysIleLeuAspValSerAlaAsnAlaValArgArgLeuGlnAlaAlaHisLeuHisProIleAlaIlePheIleArgProArgSerLeuGluAsnValLeuGluIleAsnLysArgIleThrGluGluGlnAlaArgLysAlaPheAspArgAlaThrLysLeuGluGlnGluPheThrGluCysPheSerAlaIleValGluGlyAspSerPheGluGluIleTyrHisLysValLysArgValIleGluAspLeuSerGlyProTyrIleTrpValProAlaArgGluArgLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721145" } ], "type": "nucleotide" }