{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401107908", "communityStandardTitle": [ "NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1064397[alleleid]", "alleleId": 1064397, "preferredName": "NM_199242.3(UNC13D):c.883C>T (p.Gln295Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1076211", "RCV": [ "RCV001390033" ], "variationId": 1076211 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73836167G>A?assembly=hg19", "id": "chr17:g.73836167G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75840086G>A?assembly=hg38", "id": "chr17:g.75840086G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2143892028", "rs": 2143892028 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75840086, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS282458" }, { "coordinates": [ { "allele": "T", "end": 140, "endIntronDirection": "-", "endIntronOffset": 3829, "referenceAllele": "C", "start": 140, "startIntronDirection": "-", "startIntronOffset": 3830 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000586147.1:c.118-3830C>T" ], "proteinEffect": { "hgvs": "ENSP00000466543.1:n.118-3830C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS389201" }, { "coordinates": [ { "allele": "T", "end": 105, "referenceAllele": "C", "start": 104 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587105.1:c.105C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389846" }, { "coordinates": [ { "allele": "T", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.5:n.886C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390131" }, { "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591563.5:n.1078C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392953" }, { "coordinates": [ { "allele": "T", "end": 862, "referenceAllele": "C", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.5:c.862C>T" ], "proteinEffect": { "hgvs": "ENSP00000466826.1:p.Gln288Ter", "hgvsWellDefined": "ENSP00000466826.1:p.Gln288_Glu310del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393530" }, { "@id": "http://reg.genome.network/allele/PA2499304205", "coordinates": [ { "allele": "T", "end": 1263, "referenceAllele": "C", "start": 1262 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.2:c.883C>T", "LRG_122t1:c.883C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Gln295Ter", "hgvsWellDefined": "NP_954712.1:p.Gln295_Pro1090delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044881" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Gln295Ter", "hgvsWellDefined": "XP_011522806.1:p.Gln295_Pro1113delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091628" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524505.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_011522807.1:p.Gln295Ter", "hgvsWellDefined": "XP_011522807.1:p.Gln295_Pro1113delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091629" }, { "coordinates": [ { "allele": "T", "end": 896, "referenceAllele": "C", "start": 895 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524506.1:c.883C>T" ], "proteinEffect": { "hgvs": "XP_011522808.1:p.Gln295Ter", "hgvsWellDefined": "XP_011522808.1:p.Gln295_Pro1112delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091630" }, { "coordinates": [ { "allele": "T", "end": 1346, "referenceAllele": "C", "start": 1345 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.1:c.274C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Gln92Ter", "hgvsWellDefined": "XP_011522809.1:p.Gln92_Pro910delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091631" }, { "coordinates": [ { "allele": "T", "end": 332, "referenceAllele": "C", "start": 331 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524508.1:c.274C>T" ], "proteinEffect": { "hgvs": "XP_011522810.1:p.Gln92Ter", "hgvsWellDefined": "XP_011522810.1:p.Gln92_Pro910delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091632" }, { "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.2:c.883C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Gln295Ter", "hgvsWellDefined": "XP_011522806.1:p.Gln295_Pro1113delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547490" }, { "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.2:c.274C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Gln92Ter", "hgvsWellDefined": "XP_011522809.1:p.Gln92_Pro910delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547491" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "C", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_024450640.1:c.274C>T" ], "proteinEffect": { "hgvs": "XP_024306408.1:p.Gln92Ter", "hgvsWellDefined": "XP_024306408.1:p.Gln92_Pro910delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584174" }, { "@id": "http://reg.genome.network/allele/PA2499304205", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "C", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.3:c.883C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Gln295Ter", "hgvsWellDefined": "NP_954712.1:p.Gln295_Pro1090delinsProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729979", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.883C>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.883C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Gln295Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Gln295Ter" } } } } ], "type": "nucleotide" }