{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401107209", "communityStandardTitle": [ "NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3030160[alleleid]", "alleleId": 3030160, "preferredName": "NM_199242.3(UNC13D):c.943C>T (p.Gln315Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2865379", "RCV": [ "RCV003602601" ], "variationId": 2865379 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73836107G>A?assembly=hg19", "id": "chr17:g.73836107G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75840026G>A?assembly=hg38", "id": "chr17:g.75840026G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2545985023", "rs": 2545985023 } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 75840026, "referenceAllele": "G", "start": 75840025 } ], "hgvs": [ "NC_000017.11:g.75840026G>A", "CM000679.2:g.75840026G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 73836107, "referenceAllele": "G", "start": 73836106 } ], "hgvs": [ "NC_000017.10:g.73836107G>A", "CM000679.1:g.73836107G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 71347702, "referenceAllele": "G", "start": 71347701 } ], "hgvs": [ "NC_000017.9:g.71347702G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 9692, "referenceAllele": "C", "start": 9691 } ], "hgvs": [ "NG_007266.1:g.9692C>T", "LRG_122:g.9692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000514" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.6:c.924C>T" ], "proteinEffect": { "hgvs": "ENSP00000514388.1:p.Pro308=" }, "referenceSequence": "http://reg.genome.network/refseq/RS906071" }, { "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.6:c.925C>T" ], "proteinEffect": { "hgvs": "ENSP00000466826.2:p.Gln309Ter", "hgvsWellDefined": "ENSP00000466826.2:p.Gln309_Glu311del" }, "referenceSequence": "http://reg.genome.network/refseq/RS906114" }, { "coordinates": [ { "allele": "T", "end": 123, "referenceAllele": "C", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000699511.1:c.123C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS910399" }, { "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.9:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Gln315Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Gln315_Pro1090delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS740189", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.943C>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.943C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Gln315Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Gln315Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000207549.8:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000207549.3:p.Gln315Ter", "hgvsWellDefined": "ENSP00000207549.3:p.Gln315_Pro1090delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247840" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000412096.6:c.943C>T" ], "proteinEffect": { "hgvs": "ENSP00000388093.1:p.Gln315Ter", "hgvsWellDefined": "ENSP00000388093.1:p.Gln315_Tyr1142delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnGlyIleGlyProSerValSerTrpProTrpProIleCysLeuLeuAlaPheLeuPheGlnProLeuGlyTrpGlyProGlySerLeuGlyProGlyLeuGlnAlaGlnSerLeuLeuGluLysGlyGluGlyThrLeuProLysMetArgLeuGlnLeuProTrpGlyGluGlyGlyGlyHisTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS282458" }, { "coordinates": [ { "allele": "T", "end": 140, "endIntronDirection": "-", "endIntronOffset": 3769, "referenceAllele": "C", "start": 140, "startIntronDirection": "-", "startIntronOffset": 3770 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000586147.1:c.118-3770C>T" ], "proteinEffect": { "hgvs": "ENSP00000466543.1:n.118-3770C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS389201" }, { "coordinates": [ { "allele": "T", "end": 165, "referenceAllele": "C", "start": 164 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587105.1:c.165C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS389846" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.5:n.946C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390131" }, { "coordinates": [ { "allele": "T", "end": 1138, "referenceAllele": "C", "start": 1137 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591563.5:n.1138C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392953" }, { "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.5:c.922C>T" ], "proteinEffect": { "hgvs": "ENSP00000466826.1:p.Gln308Ter", "hgvsWellDefined": "ENSP00000466826.1:p.Gln308_Glu310del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393530" }, { "@id": "http://reg.genome.network/allele/PA2742031138", "coordinates": [ { "allele": "T", "end": 1323, "referenceAllele": "C", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.2:c.943C>T", "LRG_122t1:c.943C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Gln315Ter", "hgvsWellDefined": "NP_954712.1:p.Gln315_Pro1090delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044881" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Gln315Ter", "hgvsWellDefined": "XP_011522806.1:p.Gln315_Pro1113delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091628" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524505.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_011522807.1:p.Gln315Ter", "hgvsWellDefined": "XP_011522807.1:p.Gln315_Pro1113delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091629" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524506.1:c.943C>T" ], "proteinEffect": { "hgvs": "XP_011522808.1:p.Gln315Ter", "hgvsWellDefined": "XP_011522808.1:p.Gln315_Pro1112delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091630" }, { "coordinates": [ { "allele": "T", "end": 1406, "referenceAllele": "C", "start": 1405 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Gln112Ter", "hgvsWellDefined": "XP_011522809.1:p.Gln112_Pro910delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091631" }, { "coordinates": [ { "allele": "T", "end": 392, "referenceAllele": "C", "start": 391 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524508.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_011522810.1:p.Gln112Ter", "hgvsWellDefined": "XP_011522810.1:p.Gln112_Pro910delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091632" }, { "coordinates": [ { "allele": "T", "end": 1015, "referenceAllele": "C", "start": 1014 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.2:c.943C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Gln315Ter", "hgvsWellDefined": "XP_011522806.1:p.Gln315_Pro1113delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547490" }, { "coordinates": [ { "allele": "T", "end": 1353, "referenceAllele": "C", "start": 1352 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.2:c.334C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Gln112Ter", "hgvsWellDefined": "XP_011522809.1:p.Gln112_Pro910delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547491" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "C", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_024450640.1:c.334C>T" ], "proteinEffect": { "hgvs": "XP_024306408.1:p.Gln112Ter", "hgvsWellDefined": "XP_024306408.1:p.Gln112_Pro910delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584174" }, { "@id": "http://reg.genome.network/allele/PA2742031138", "coordinates": [ { "allele": "T", "end": 1010, "referenceAllele": "C", "start": 1009 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.3:c.943C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Gln315Ter", "hgvsWellDefined": "NP_954712.1:p.Gln315_Pro1090delinsHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729979", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.943C>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.943C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Gln315Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Gln315Ter" } } } } ], "type": "nucleotide" }