{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401109479", "communityStandardTitle": [ "NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064398[alleleid]", "alleleId": 1064398, "preferredName": "NM_199242.3(UNC13D):c.779G>A (p.Trp260Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074647", "RCV": [ "RCV001388009" ], "variationId": 1074647 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73836385C>T?assembly=hg19", "id": "chr17:g.73836385C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75840304C>T?assembly=hg38", "id": "chr17:g.75840304C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/943094444", "rs": 943094444 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 75840304, "referenceAllele": "C", "start": 75840303 } ], "hgvs": [ "NC_000017.11:g.75840304C>T", "CM000679.2:g.75840304C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 73836385, "referenceAllele": "C", "start": 73836384 } ], "hgvs": [ "NC_000017.10:g.73836385C>T", "CM000679.1:g.73836385C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "T", "end": 71347980, "referenceAllele": "C", "start": 71347979 } ], "hgvs": [ "NC_000017.9:g.71347980C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 9414, "referenceAllele": "G", "start": 9413 } ], "hgvs": [ "NG_007266.1:g.9414G>A", "LRG_122:g.9414G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000514" } ], "transcriptAlleles": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS740189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.779G>A" }, "RefSeq": { "hgvs": "NM_199242.3:c.779G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Trp260Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Trp260Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1159, "referenceAllele": "G", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.8:c.779G>A" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Trp260Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS247840" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000412096.6:c.779G>A" ], "proteinEffect": { "hgvs": "ENSP00000388093.1:p.Trp260Ter", "hgvsWellDefined": "ENSP00000388093.1:p.Trp260_Tyr1142delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnGlyIleGlyProSerValSerTrpProTrpProIleCysLeuLeuAlaPheLeuPheGlnProLeuGlyTrpGlyProGlySerLeuGlyProGlyLeuGlnAlaGlnSerLeuLeuGluLysGlyGluGlyThrLeuProLysMetArgLeuGlnLeuProTrpGlyGluGlyGlyGlyHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282458" }, { "coordinates": [ { "allele": "A", "end": 140, "endIntronDirection": "+", "endIntronOffset": 3917, "referenceAllele": "G", "start": 140, "startIntronDirection": "+", "startIntronOffset": 3916 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000586147.1:c.117+3917G>A" ], "proteinEffect": { "hgvs": "ENSP00000466543.1:n.117+3917G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS389201" }, { "coordinates": [ { "allele": "A", "end": 1, "referenceAllele": "G", "start": 0 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587105.1:c.1G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS389846" }, { "coordinates": [ { "allele": "A", "end": 782, "referenceAllele": "G", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.5:n.782G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS390131" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000590762.5:c.722G>A" ], "proteinEffect": { "hgvs": "ENSP00000467653.1:p.Trp241Ter", "hgvsWellDefined": "ENSP00000467653.1:p.Trp241_Arg267del" }, "referenceSequence": "http://reg.genome.network/refseq/RS392417" }, { "coordinates": [ { "allele": "A", "end": 860, "referenceAllele": "G", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591563.5:n.860G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS392953" }, { "coordinates": [ { "allele": "A", "end": 758, "referenceAllele": "G", "start": 757 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.5:c.758G>A" ], "proteinEffect": { "hgvs": "ENSP00000466826.1:p.Trp253Ter", "hgvsWellDefined": "ENSP00000466826.1:p.Trp253_Glu310del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393530" }, { "@id": "http://reg.genome.network/allele/PA2499304202", "coordinates": [ { "allele": "A", "end": 1159, "referenceAllele": "G", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.2:c.779G>A", "LRG_122t1:c.779G>A" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Trp260Ter", "hgvsWellDefined": "NP_954712.1:p.Trp260_Pro1090delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044881" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.1:c.779G>A" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Trp260Ter", "hgvsWellDefined": "XP_011522806.1:p.Trp260_Pro1113delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091628" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524505.1:c.779G>A" ], "proteinEffect": { "hgvs": "XP_011522807.1:p.Trp260Ter", "hgvsWellDefined": "XP_011522807.1:p.Trp260_Pro1113delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091629" }, { "coordinates": [ { "allele": "A", "end": 792, "referenceAllele": "G", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524506.1:c.779G>A" ], "proteinEffect": { "hgvs": "XP_011522808.1:p.Trp260Ter", "hgvsWellDefined": "XP_011522808.1:p.Trp260_Pro1112delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091630" }, { "coordinates": [ { "allele": "A", "end": 1242, "referenceAllele": "G", "start": 1241 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.1:c.170G>A" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Trp57Ter", "hgvsWellDefined": "XP_011522809.1:p.Trp57_Pro910delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091631" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "G", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524508.1:c.170G>A" ], "proteinEffect": { "hgvs": "XP_011522810.1:p.Trp57Ter", "hgvsWellDefined": "XP_011522810.1:p.Trp57_Pro910delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091632" }, { "coordinates": [ { "allele": "A", "end": 851, "referenceAllele": "G", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.2:c.779G>A" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Trp260Ter", "hgvsWellDefined": "XP_011522806.1:p.Trp260_Pro1113delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547490" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "G", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.2:c.170G>A" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Trp57Ter", "hgvsWellDefined": "XP_011522809.1:p.Trp57_Pro910delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547491" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_024450640.1:c.170G>A" ], "proteinEffect": { "hgvs": "XP_024306408.1:p.Trp57Ter", "hgvsWellDefined": "XP_024306408.1:p.Trp57_Pro910delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584174" }, { "@id": "http://reg.genome.network/allele/PA2499304202", "coordinates": [ { "allele": "A", "end": 846, "referenceAllele": "G", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.3:c.779G>A" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Trp260Ter", "hgvsWellDefined": "NP_954712.1:p.Trp260_Pro1090delinsTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729979", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.779G>A" }, "RefSeq": { "hgvs": "NM_199242.3:c.779G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Trp260Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Trp260Ter" } } } } ], "type": "nucleotide" }