{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8773369", "communityStandardTitle": [ "NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1445035[alleleid]", "alleleId": 1445035, "preferredName": "NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1454697", "RCV": [ "RCV001942001", "RCV002264436" ], "variationId": 1454697 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-73836886-G-A", "id": "17-73836886-G-A", "variant": "17:73836886 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.73836886G>A?assembly=hg19", "id": "chr17:g.73836886G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.75840805G>A?assembly=hg38", "id": "chr17:g.75840805G>A" } ], "dbSNP": [ { "@id": 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"http://reg.genome.network/refseq/RS906057" }, { "coordinates": [ { "allele": "T", "end": 226, "referenceAllele": "C", "start": 225 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587495.2:n.226C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS906070" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.6:c.583C>T" ], "proteinEffect": { "hgvs": "ENSP00000514388.1:p.Arg195Ter", "hgvsWellDefined": "ENSP00000514388.1:p.Arg195_Arg320delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnValLeuThrLeuThrGlyTrpAlaSerProProValArgThrCysAlaAlaGluArgThrSerGlyThrProTrpAsnProAlaLeuArgProThrGlnThrGluAlaSerAlaThrSerSerSerAsnSerSerIleSerGlyGluProLeuArgProAlaAlaArgSerArgAlaThrProCysThrSerThrSerCysSerSerLeuCysProThrArgSerProSerThrArgArgGluAlaProProGlyThrGlyArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906071" }, { "coordinates": [ { "allele": "T", "end": 622, "referenceAllele": "C", "start": 621 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.6:c.622C>T" ], "proteinEffect": { "hgvs": "ENSP00000466826.2:p.Arg208Ter", "hgvsWellDefined": "ENSP00000466826.2:p.Arg208_Glu311del" }, "referenceSequence": "http://reg.genome.network/refseq/RS906114" }, { "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], 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201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587495.1:n.226C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390125" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000587504.5:n.605C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS390131" }, { "coordinates": [ { "allele": "T", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000590762.5:c.583C>T" ], "proteinEffect": { "hgvs": "ENSP00000467653.1:p.Arg195Ter", "hgvsWellDefined": "ENSP00000467653.1:p.Arg195_Arg267del" }, "referenceSequence": "http://reg.genome.network/refseq/RS392417" }, { "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000591563.5:n.721C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS392953" }, { "coordinates": [ { "allele": "T", "end": 619, "referenceAllele": "C", "start": 618 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "ENST00000592386.5:c.619C>T" ], "proteinEffect": { "hgvs": "ENSP00000466826.1:p.Arg207Ter", "hgvsWellDefined": "ENSP00000466826.1:p.Arg207_Glu310del" }, "referenceSequence": "http://reg.genome.network/refseq/RS393530" }, { "@id": "http://reg.genome.network/allele/PA2573314809", "coordinates": [ { "allele": "T", "end": 1020, "referenceAllele": "C", "start": 1019 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.2:c.640C>T", "LRG_122t1:c.640C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Arg214Ter", "hgvsWellDefined": "NP_954712.1:p.Arg214_Pro1090delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS044881" }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Arg214Ter", "hgvsWellDefined": "XP_011522806.1:p.Arg214_Pro1113delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091628" }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524505.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011522807.1:p.Arg214Ter", "hgvsWellDefined": "XP_011522807.1:p.Arg214_Pro1113delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091629" }, { "coordinates": [ { "allele": "T", "end": 653, "referenceAllele": "C", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524506.1:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011522808.1:p.Arg214Ter", "hgvsWellDefined": "XP_011522808.1:p.Arg214_Pro1112delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091630" }, { "coordinates": [ { "allele": "T", "end": 1103, "referenceAllele": "C", "start": 1102 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.1:c.31C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Arg11Ter", "hgvsWellDefined": "XP_011522809.1:p.Arg11_Pro910delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091631" }, { "coordinates": [ { "allele": "T", "end": 89, "referenceAllele": "C", "start": 88 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524508.1:c.31C>T" ], "proteinEffect": { "hgvs": "XP_011522810.1:p.Arg11Ter", "hgvsWellDefined": "XP_011522810.1:p.Arg11_Pro910delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091632" }, { "coordinates": [ { "allele": "T", "end": 712, "referenceAllele": "C", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524504.2:c.640C>T" ], "proteinEffect": { "hgvs": "XP_011522806.1:p.Arg214Ter", "hgvsWellDefined": "XP_011522806.1:p.Arg214_Pro1113delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547490" }, { "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_011524507.2:c.31C>T" ], "proteinEffect": { "hgvs": "XP_011522809.1:p.Arg11Ter", "hgvsWellDefined": "XP_011522809.1:p.Arg11_Pro910delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547491" }, { "coordinates": [ { "allele": "T", "end": 125, "referenceAllele": "C", "start": 124 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "XM_024450640.1:c.31C>T" ], "proteinEffect": { "hgvs": "XP_024306408.1:p.Arg11Ter", "hgvsWellDefined": "XP_024306408.1:p.Arg11_Pro910delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerArgAlaSerLeuLeuProProProProProProCysArgAlaValSerAlaSerLeuArgProArgProSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584174" }, { "@id": "http://reg.genome.network/allele/PA2573314809", "coordinates": [ { "allele": "T", "end": 707, "referenceAllele": "C", "start": 706 } ], "gene": "http://reg.genome.network/gene/GN023147", "geneNCBI_id": 201294, "geneSymbol": "UNC13D", "hgvs": [ "NM_199242.3:c.640C>T" ], "proteinEffect": { "hgvs": "NP_954712.1:p.Arg214Ter", "hgvsWellDefined": "NP_954712.1:p.Arg214_Pro1090delinsGlnLysLeuGlyGluLeuThrAspLeuHisGlyLeuArgArgIlePheLysGluAlaArgLysAspLysGlyGlnAspAspPheLeuGlyAsnValValLeuArgLeuGlnAspLeuArgCysArgGluAspGlnTrpTyrProLeuGluProArgThrGluThrTyrProAspArgGlyGlnCysHisLeuGlnPheGlnLeuIleHisLysArgArgAlaThrSerAlaSerArgSerGlnProSerTyrThrValHisLeuHisLeuLeuGlnGlnLeuValSerHisGluValThrGlnHisGluAlaGlySerThrSerTrpAspGlySerLeuSerProGlnAlaAlaThrValLeuPheLeuHisAlaThrGlnLysAspLeuSerAspPheHisGlnSerMetAlaGlnTrpLeuAlaTyrSerArgLeuTyrGlnSerLeuGluPheProSerSerCysLeuLeuHisProIleThrSerIleGluTyrGlnTrpIleGlnGlyArgLeuLysAlaGluGlnGlnGluGluLeuAlaAlaSerPheSerSerLeuLeuThrTyrGlyLeuSerLeuIleArgArgPheArgSerValPheProLeuSerValSerAspSerProAlaArgLeuGlnSerLeuLeuArgValLeuValGlnMetCysLysMetLysAlaPheGlyGluLeuCysProAsnThrAlaProLeuProGlnLeuValThrGluAlaLeuGlnThrGlyThrThrGluTrpPheHisLeuLysGlnGlnHisHisGlnProMetValGlnGlyIleProGluAlaGlyLysAlaLeuLeuGlyLeuValGlnAspValIleGlyAspLeuHisGlnCysGlnArgThrTrpAspLysIlePheHisAsnThrLeuLysIleHisLeuPheSerMetAlaPheArgGluLeuGlnTrpLeuValAlaLysArgValGlnAspHisThrThrValValGlyAspValValSerProGluMetGlyGluSerLeuPheGlnLeuTyrIleSerLeuLysGluLeuCysGlnLeuArgMetSerSerSerGluArgAspGlyValLeuAlaLeuAspAsnPheHisArgTrpPheGlnProAlaIleProSerTrpLeuGlnLysThrTyrAsnGluAlaLeuAlaArgValGlnArgAlaValGlnMetAspGluLeuValProLeuGlyGluLeuThrLysHisSerThrSerAlaValAspLeuSerThrCysPheAlaGlnIleSerHisThrAlaArgGlnLeuAspTrpProAspProGluGluAlaPheMetIleThrValLysPheValGluAspThrCysArgLeuAlaLeuValTyrCysSerLeuIleLysAlaArgAlaArgGluLeuSerSerGlyGlnLysAspGlnGlyGlnAlaAlaAsnMetLeuCysValValValAsnAspMetGluGlnLeuArgLeuValIleGlyLysLeuProAlaGlnLeuAlaTrpGluAlaLeuGluGlnArgValGlyAlaValLeuGluGlnGlyGlnLeuGlnAsnThrLeuHisAlaGlnLeuGlnSerAlaLeuAlaGlyLeuGlyHisGluIleArgThrGlyValArgThrLeuAlaGluGlnLeuGluValGlyIleAlaLysHisIleGlnLysLeuValGlyValArgGluSerValLeuProGluAspAlaIleLeuProLeuMetLysPheLeuGluValGluLeuCysTyrMetAsnThrAsnLeuValGlnGluAsnPheSerSerLeuLeuThrLeuLeuTrpThrHisThrLeuThrValLeuValGluAlaAlaAlaSerGlnArgSerSerSerLeuAlaSerAsnArgLeuLysIleAlaLeuGlnAsnLeuGluIleCysPheHisAlaGluGlyCysGlyLeuProProLysAlaLeuHisThrAlaThrPheGlnAlaLeuGlnArgAspLeuGluLeuGlnAlaAlaSerSerArgGluLeuIleArgLysTyrPheCysSerArgIleGlnGlnGlnAlaGluThrThrSerGluGluLeuGlyAlaValThrValLysAlaSerTyrArgAlaSerGluGlnLysLeuArgValGluLeuLeuSerAlaSerSerLeuLeuProLeuAspSerAsnGlySerSerAspProPheValGlnLeuThrLeuGluProArgHisGluPheProGluLeuAlaAlaArgGluThrGlnLysHisLysLysAspLeuHisProLeuPheAspGluThrPheGluPheLeuValProAlaGluProCysArgLysAlaGlyAlaCysLeuLeuLeuThrValLeuAspTyrAspThrLeuGlyAlaAspAspLeuGluGlyGluAlaPheLeuProLeuArgGluValProGlyLeuSerGlySerGluGluProGlyGluValProGlnThrArgLeuProLeuThrTyrProAlaProAsnGlyAspProIleLeuGlnLeuLeuGluGlyArgLysGlyAspArgGluAlaGlnValPheValArgLeuArgArgHisArgAlaLysGlnAlaSerGlnHisAlaLeuArgProAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729979", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000207549.9:c.640C>T" }, "RefSeq": { "hgvs": "NM_199242.3:c.640C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000207549.3:p.Arg214Ter" }, "RefSeq": { "hgvs": "NP_954712.1:p.Arg214Ter" } } } } ], "type": "nucleotide" }