{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372760253", "communityStandardTitle": [ "NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2100153[alleleid]", "alleleId": 2100153, "preferredName": "NM_203447.4(DOCK8):c.3550A>T (p.Lys1184Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2033221", "RCV": [ "RCV003764032" ], "variationId": 2033221 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.414801A>T?assembly=hg19", "id": "chr9:g.414801A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.414801A>T?assembly=hg38", "id": "chr9:g.414801A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/770475792", "rs": 770475792 } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 414801, "referenceAllele": "A", "start": 414800 } ], "hgvs": [ "NC_000009.12:g.414801A>T", "CM000671.2:g.414801A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 414801, "referenceAllele": "A", "start": 414800 } ], "hgvs": [ "NC_000009.11:g.414801A>T", "CM000671.1:g.414801A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "T", "end": 404801, "referenceAllele": "A", "start": 404800 } ], "hgvs": [ "NC_000009.10:g.404801A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "T", "end": 204937, "referenceAllele": "A", "start": 204936 } ], "hgvs": [ "NG_017007.1:g.204937A>T", "LRG_196:g.204937A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003365" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3647, "referenceAllele": "A", "start": 3646 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000382329.2:c.3250A>T" ], "proteinEffect": { "hgvs": "ENSP00000371766.2:p.Lys1084Ter", "hgvsWellDefined": "ENSP00000371766.2:p.Lys1084_Phe1936delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgSerThrAlaSerSerAlaThrThrGlyGlnArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824413" }, { "coordinates": [ { "allele": "T", "end": 71, "referenceAllele": "A", "start": 70 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000683406.1:n.71A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828383" }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "A", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000685949.1:n.2338A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS830322" }, { "coordinates": [ { "allele": "T", "end": 3662, "referenceAllele": "A", "start": 3661 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000432829.7:c.3550A>T" ], "proteinEffect": { "hgvs": "ENSP00000394888.3:p.Lys1184Ter", "hgvsWellDefined": "ENSP00000394888.3:p.Lys1184_Ser2099delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755428", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432829.7:c.3550A>T" }, "RefSeq": { "hgvs": "NM_203447.4:c.3550A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394888.3:p.Lys1184Ter" }, "RefSeq": { "hgvs": "NP_982272.2:p.Lys1184Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2338, "referenceAllele": "A", "start": 2337 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000382329.1:c.1951A>T" ], "proteinEffect": { "hgvs": "ENSP00000371766.1:p.Lys651Ter", "hgvsWellDefined": "ENSP00000371766.1:p.Lys651_Ser1566delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273705" }, { "coordinates": [ { "allele": "T", "end": 3662, "referenceAllele": "A", "start": 3661 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000432829.6:c.3550A>T" ], "proteinEffect": { "hgvs": "ENSP00000394888.3:p.Lys1184Ter", "hgvsWellDefined": "ENSP00000394888.3:p.Lys1184_Ser2099delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292259" }, { "coordinates": [ { "allele": "T", "end": 3447, "referenceAllele": "A", "start": 3446 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000453981.5:c.3346A>T" ], "proteinEffect": { "hgvs": "ENSP00000408464.2:p.Lys1116Ter", "hgvsWellDefined": "ENSP00000408464.2:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302361" }, { "coordinates": [ { "allele": "T", "end": 3329, "referenceAllele": "A", "start": 3328 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000469391.5:c.3250A>T" ], "proteinEffect": { "hgvs": "ENSP00000419438.1:p.Lys1084Ter", "hgvsWellDefined": "ENSP00000419438.1:p.Lys1084_Ser1999delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS312080" }, { "coordinates": [ { "allele": "T", "end": 5505, "referenceAllele": "A", "start": 5504 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000495184.5:n.5505A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS331939" }, { "@id": "http://reg.genome.network/allele/PA2826160257", "coordinates": [ { "allele": "T", "end": 3351, "referenceAllele": "A", "start": 3350 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001190458.1:c.3250A>T" ], "proteinEffect": { "hgvs": "NP_001177387.1:p.Lys1084Ter", "hgvsWellDefined": "NP_001177387.1:p.Lys1084_Ser1999delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016185" }, { "@id": "http://reg.genome.network/allele/PA2826189769", "coordinates": [ { "allele": "T", "end": 3447, "referenceAllele": "A", "start": 3446 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001193536.1:c.3346A>T" ], "proteinEffect": { "hgvs": "NP_001180465.1:p.Lys1116Ter", "hgvsWellDefined": "NP_001180465.1:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016442" }, { "@id": "http://reg.genome.network/allele/PA2580564018", "coordinates": [ { "allele": "T", "end": 3662, "referenceAllele": "A", "start": 3661 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_203447.3:c.3550A>T", "LRG_196t1:c.3550A>T" ], "proteinEffect": { "hgvs": "NP_982272.2:p.Lys1184Ter", "hgvsWellDefined": "NP_982272.2:p.Lys1184_Ser2099delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045213" }, { "coordinates": [ { "allele": "T", "end": 3401, "referenceAllele": "A", "start": 3400 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518045.1:c.3250A>T" ], "proteinEffect": { "hgvs": "XP_011516347.1:p.Lys1084Ter", "hgvsWellDefined": "XP_011516347.1:p.Lys1084_Ser1999delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085227" }, { "coordinates": [ { "allele": "T", "end": 3560, "referenceAllele": "A", "start": 3559 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518046.1:c.3412A>T" ], "proteinEffect": { "hgvs": "XP_011516348.1:p.Lys1138Ter", "hgvsWellDefined": "XP_011516348.1:p.Lys1138_Ser2053delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085228" }, { "coordinates": [ { "allele": "T", "end": 3804, "referenceAllele": "A", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518047.1:c.3346A>T" ], "proteinEffect": { "hgvs": "XP_011516349.1:p.Lys1116Ter", "hgvsWellDefined": "XP_011516349.1:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085229" }, { "coordinates": [ { "allele": "T", "end": 3487, "referenceAllele": "A", "start": 3486 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518048.1:c.3346A>T" ], "proteinEffect": { "hgvs": "XP_011516350.1:p.Lys1116Ter", "hgvsWellDefined": "XP_011516350.1:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085230" }, { "coordinates": [ { "allele": "T", "end": 2222, "referenceAllele": "A", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518049.1:c.1786A>T" ], "proteinEffect": { "hgvs": "XP_011516351.1:p.Lys596Ter", "hgvsWellDefined": "XP_011516351.1:p.Lys596_Ser1511delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085231" }, { "coordinates": [ { "allele": "T", "end": 3422, "referenceAllele": "A", "start": 3421 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518045.3:c.3250A>T" ], "proteinEffect": { "hgvs": "XP_011516347.1:p.Lys1084Ter", "hgvsWellDefined": "XP_011516347.1:p.Lys1084_Ser1999delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544747" }, { "coordinates": [ { "allele": "T", "end": 3560, "referenceAllele": "A", "start": 3559 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518046.2:c.3412A>T" ], "proteinEffect": { "hgvs": "XP_011516348.1:p.Lys1138Ter", "hgvsWellDefined": "XP_011516348.1:p.Lys1138_Ser2053delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544748" }, { "coordinates": [ { "allele": "T", "end": 3611, "referenceAllele": "A", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518047.3:c.3346A>T" ], "proteinEffect": { "hgvs": "XP_011516349.1:p.Lys1116Ter", "hgvsWellDefined": "XP_011516349.1:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544749" }, { "coordinates": [ { "allele": "T", "end": 3482, "referenceAllele": "A", "start": 3481 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518048.2:c.3346A>T" ], "proteinEffect": { "hgvs": "XP_011516350.1:p.Lys1116Ter", "hgvsWellDefined": "XP_011516350.1:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544750" }, { "coordinates": [ { "allele": "T", "end": 2222, "referenceAllele": "A", "start": 2221 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518049.2:c.1786A>T" ], "proteinEffect": { "hgvs": "XP_011516351.1:p.Lys596Ter", "hgvsWellDefined": "XP_011516351.1:p.Lys596_Ser1511delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544751" }, { "coordinates": [ { "allele": "T", "end": 3517, "referenceAllele": "A", "start": 3516 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_017015173.1:c.3346A>T" ], "proteinEffect": { "hgvs": "XP_016870662.1:p.Lys1116Ter", "hgvsWellDefined": "XP_016870662.1:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567954" }, { "coordinates": [ { "allele": "T", "end": 3597, "referenceAllele": "A", "start": 3596 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_017015174.1:c.3412A>T" ], "proteinEffect": { "hgvs": "XP_016870663.1:p.Lys1138Ter", "hgvsWellDefined": "XP_016870663.1:p.Lys1138_Ser2053delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567955" }, { "@id": "http://reg.genome.network/allele/PA2826160257", "coordinates": [ { "allele": "T", "end": 3353, "referenceAllele": "A", "start": 3352 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001190458.2:c.3250A>T" ], "proteinEffect": { "hgvs": "NP_001177387.1:p.Lys1084Ter", "hgvsWellDefined": "NP_001177387.1:p.Lys1084_Ser1999delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679115" }, { "@id": "http://reg.genome.network/allele/PA2826189769", "coordinates": [ { "allele": "T", "end": 3449, "referenceAllele": "A", "start": 3448 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001193536.2:c.3346A>T" ], "proteinEffect": { "hgvs": "NP_001180465.1:p.Lys1116Ter", "hgvsWellDefined": "NP_001180465.1:p.Lys1116_Ser2031delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713758" }, { "@id": "http://reg.genome.network/allele/PA2580564018", "coordinates": [ { "allele": "T", "end": 3662, "referenceAllele": "A", "start": 3661 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_203447.4:c.3550A>T" ], "proteinEffect": { "hgvs": "NP_982272.2:p.Lys1184Ter", "hgvsWellDefined": "NP_982272.2:p.Lys1184_Ser2099delinsAlaValSerAlaIleHisSerLeuLeuSerSerHisAspLeuAspProArgCysValLysProGluValLysValLysIleAlaAlaLeuTyrLeuProLeuValGlyIleIleLeuAspAlaLeuProGlnLeuCysAspPheThrValAlaAspThrArgArgTyrArgThrSerGlySerAspGluGluGlnGluGlyAlaGlyAlaIleAsnGlnAsnValAlaLeuAlaIleAlaGlyAsnAsnPheAsnLeuLysThrSerGlyIleValLeuSerSerLeuProTyrLysGlnTyrAsnMetLeuAsnAlaAspThrThrArgAsnLeuMetIleCysPheLeuTrpIleMetLysAsnAlaAspGlnSerLeuIleArgLysTrpIleAlaAspLeuProSerThrGlnLeuAsnArgIleLeuAspLeuLeuPheIleCysValLeuCysPheGluTyrLysGlyLysGlnSerSerAspLysValSerThrGlnValLeuGlnLysSerArgAspValLysAlaArgLeuGluGluAlaLeuLeuArgGlyGluGlyAlaArgGlyGluMetMetArgArgArgAlaProGlyAsnAspArgPheProGlyLeuAsnGluAsnLeuArgTrpLysLysGluGlnThrHisTrpArgGlnAlaAsnGluLysLeuAspLysThrLysAlaGluLeuAspGlnGluAlaLeuIleSerGlyAsnLeuAlaThrGluAlaHisLeuIleIleLeuAspMetGlnGluAsnIleIleGlnAlaSerSerAlaLeuAspCysLysAspSerLeuLeuGlyGlyValLeuArgValLeuValAsnSerLeuAsnCysAspGlnSerThrThrTyrLeuThrHisCysPheAlaThrLeuArgAlaLeuIleAlaLysPheGlyAspLeuLeuPheGluGluGluValGluGlnCysPheAspLeuCysHisGlnValLeuHisHisCysSerSerSerMetAspValThrArgSerGlnAlaCysAlaThrLeuTyrLeuLeuMetArgPheSerPheGlyAlaThrSerAsnPheAlaArgValLysMetGlnValThrMetSerLeuAlaSerLeuValGlyArgAlaProAspPheAsnGluGluHisLeuArgArgSerLeuArgThrIleLeuAlaTyrSerGluGluAspThrAlaMetGlnMetThrProPheProThrGlnValGluGluLeuLeuCysAsnLeuAsnSerIleLeuTyrAspThrValLysMetArgGluPheGlnGluAspProGluMetLeuMetAspLeuMetTyrArgIleAlaLysSerTyrGlnAlaSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGluLysHisThrLysLysLysCysTyrThrGluAlaAlaMetCysLeuValHisAlaAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspHisSerTyrLeuProValGlySerValSerPheGlnAsnIleSerSerAsnValLeuGluGluSerValValSerGluAspThrLeuSerProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS730068", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432829.7:c.3550A>T" }, "RefSeq": { "hgvs": "NM_203447.4:c.3550A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394888.3:p.Lys1184Ter" }, "RefSeq": { "hgvs": "NP_982272.2:p.Lys1184Ter" } } } } ], "type": "nucleotide" }