{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372767725", "communityStandardTitle": [ "NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514596[alleleid]", "alleleId": 514596, "preferredName": "NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523787", "RCV": [ "RCV000627241", "RCV001824146" ], "variationId": 523787 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.439297C>A?assembly=hg19", "id": "chr9:g.439297C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr9:g.439297C>A?assembly=hg38", "id": "chr9:g.439297C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1554707993", "rs": 1554707993 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/9-439297-C-A?dataset=gnomad_r4", "id": "9-439297-C-A", "variant": "9:439297 C / A" } ] }, "genomicAlleles": [ { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 439297, "referenceAllele": "C", "start": 439296 } ], "hgvs": [ "NC_000009.12:g.439297C>A", "CM000671.2:g.439297C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000057" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 439297, "referenceAllele": "C", "start": 439296 } ], "hgvs": [ "NC_000009.11:g.439297C>A", "CM000671.1:g.439297C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000033" }, { "chromosome": "9", "coordinates": [ { "allele": "A", "end": 429297, "referenceAllele": "C", "start": 429296 } ], "hgvs": [ "NC_000009.10:g.429297C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000009" }, { "coordinates": [ { "allele": "A", "end": 229433, "referenceAllele": "C", "start": 229432 } ], "hgvs": [ "NG_017007.1:g.229433C>A", "LRG_196:g.229433C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003365" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 5229, "referenceAllele": "C", "start": 5228 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000382329.2:c.4832C>A" ], "proteinEffect": { "hgvs": "ENSP00000371766.2:p.Ser1611Ter", "hgvsWellDefined": "ENSP00000371766.2:p.Ser1611_Phe1936delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgSerThrAlaSerSerAlaThrThrGlyGlnArgProPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS824413" }, { "coordinates": [ { "allele": "A", "end": 1607, "referenceAllele": "C", "start": 1606 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000683406.1:n.1607C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828383" }, { "coordinates": [ { "allele": "A", "end": 3920, "referenceAllele": "C", "start": 3919 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000685949.1:n.3920C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS830322" }, { "coordinates": [ { "allele": "A", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000432829.7:c.5132C>A" ], "proteinEffect": { "hgvs": "ENSP00000394888.3:p.Ser1711Ter", "hgvsWellDefined": "ENSP00000394888.3:p.Ser1711_Ser2099delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755428", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432829.7:c.5132C>A" }, "RefSeq": { "hgvs": "NM_203447.4:c.5132C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394888.3:p.Ser1711Ter" }, "RefSeq": { "hgvs": "NP_982272.2:p.Ser1711Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3920, "referenceAllele": "C", "start": 3919 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000382329.1:c.3533C>A" ], "proteinEffect": { "hgvs": "ENSP00000371766.1:p.Ser1178Ter", "hgvsWellDefined": "ENSP00000371766.1:p.Ser1178_Ser1566delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273705" }, { "coordinates": [ { "allele": "A", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000432829.6:c.5132C>A" ], "proteinEffect": { "hgvs": "ENSP00000394888.3:p.Ser1711Ter", "hgvsWellDefined": "ENSP00000394888.3:p.Ser1711_Ser2099delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS292259" }, { "coordinates": [ { "allele": "A", "end": 5029, "referenceAllele": "C", "start": 5028 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000453981.5:c.4928C>A" ], "proteinEffect": { "hgvs": "ENSP00000408464.2:p.Ser1643Ter", "hgvsWellDefined": "ENSP00000408464.2:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302361" }, { "coordinates": [ { "allele": "A", "end": 4911, "referenceAllele": "C", "start": 4910 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000469391.5:c.4832C>A" ], "proteinEffect": { "hgvs": "ENSP00000419438.1:p.Ser1611Ter", "hgvsWellDefined": "ENSP00000419438.1:p.Ser1611_Ser1999delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS312080" }, { "coordinates": [ { "allele": "A", "end": 7087, "referenceAllele": "C", "start": 7086 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "ENST00000495184.5:n.7087C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331939" }, { "@id": "http://reg.genome.network/allele/PA2826160562", "coordinates": [ { "allele": "A", "end": 4933, "referenceAllele": "C", "start": 4932 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001190458.1:c.4832C>A" ], "proteinEffect": { "hgvs": "NP_001177387.1:p.Ser1611Ter", "hgvsWellDefined": "NP_001177387.1:p.Ser1611_Ser1999delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016185" }, { "@id": "http://reg.genome.network/allele/PA2826190073", "coordinates": [ { "allele": "A", "end": 5029, "referenceAllele": "C", "start": 5028 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001193536.1:c.4928C>A" ], "proteinEffect": { "hgvs": "NP_001180465.1:p.Ser1643Ter", "hgvsWellDefined": "NP_001180465.1:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016442" }, { "@id": "http://reg.genome.network/allele/PA658812820", "coordinates": [ { "allele": "A", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_203447.3:c.5132C>A", "LRG_196t1:c.5132C>A" ], "proteinEffect": { "hgvs": "NP_982272.2:p.Ser1711Ter", "hgvsWellDefined": "NP_982272.2:p.Ser1711_Ser2099delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS045213" }, { "coordinates": [ { "allele": "A", "end": 4983, "referenceAllele": "C", "start": 4982 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518045.1:c.4832C>A" ], "proteinEffect": { "hgvs": "XP_011516347.1:p.Ser1611Ter", "hgvsWellDefined": "XP_011516347.1:p.Ser1611_Ser1999delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085227" }, { "coordinates": [ { "allele": "A", "end": 5142, "referenceAllele": "C", "start": 5141 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518046.1:c.4994C>A" ], "proteinEffect": { "hgvs": "XP_011516348.1:p.Ser1665Ter", "hgvsWellDefined": "XP_011516348.1:p.Ser1665_Ser2053delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085228" }, { "coordinates": [ { "allele": "A", "end": 5386, "referenceAllele": "C", "start": 5385 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518047.1:c.4928C>A" ], "proteinEffect": { "hgvs": "XP_011516349.1:p.Ser1643Ter", "hgvsWellDefined": "XP_011516349.1:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085229" }, { "coordinates": [ { "allele": "A", "end": 5069, "referenceAllele": "C", "start": 5068 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518048.1:c.4928C>A" ], "proteinEffect": { "hgvs": "XP_011516350.1:p.Ser1643Ter", "hgvsWellDefined": "XP_011516350.1:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085230" }, { "coordinates": [ { "allele": "A", "end": 3804, "referenceAllele": "C", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518049.1:c.3368C>A" ], "proteinEffect": { "hgvs": "XP_011516351.1:p.Ser1123Ter", "hgvsWellDefined": "XP_011516351.1:p.Ser1123_Ser1511delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS085231" }, { "coordinates": [ { "allele": "A", "end": 5004, "referenceAllele": "C", "start": 5003 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518045.3:c.4832C>A" ], "proteinEffect": { "hgvs": "XP_011516347.1:p.Ser1611Ter", "hgvsWellDefined": "XP_011516347.1:p.Ser1611_Ser1999delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544747" }, { "coordinates": [ { "allele": "A", "end": 5142, "referenceAllele": "C", "start": 5141 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518046.2:c.4994C>A" ], "proteinEffect": { "hgvs": "XP_011516348.1:p.Ser1665Ter", "hgvsWellDefined": "XP_011516348.1:p.Ser1665_Ser2053delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544748" }, { "coordinates": [ { "allele": "A", "end": 5193, "referenceAllele": "C", "start": 5192 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518047.3:c.4928C>A" ], "proteinEffect": { "hgvs": "XP_011516349.1:p.Ser1643Ter", "hgvsWellDefined": "XP_011516349.1:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544749" }, { "coordinates": [ { "allele": "A", "end": 5064, "referenceAllele": "C", "start": 5063 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518048.2:c.4928C>A" ], "proteinEffect": { "hgvs": "XP_011516350.1:p.Ser1643Ter", "hgvsWellDefined": "XP_011516350.1:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544750" }, { "coordinates": [ { "allele": "A", "end": 3804, "referenceAllele": "C", "start": 3803 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_011518049.2:c.3368C>A" ], "proteinEffect": { "hgvs": "XP_011516351.1:p.Ser1123Ter", "hgvsWellDefined": "XP_011516351.1:p.Ser1123_Ser1511delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS544751" }, { "coordinates": [ { "allele": "A", "end": 5099, "referenceAllele": "C", "start": 5098 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_017015173.1:c.4928C>A" ], "proteinEffect": { "hgvs": "XP_016870662.1:p.Ser1643Ter", "hgvsWellDefined": "XP_016870662.1:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567954" }, { "coordinates": [ { "allele": "A", "end": 5179, "referenceAllele": "C", "start": 5178 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "XM_017015174.1:c.4994C>A" ], "proteinEffect": { "hgvs": "XP_016870663.1:p.Ser1665Ter", "hgvsWellDefined": "XP_016870663.1:p.Ser1665_Ser2053delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS567955" }, { "@id": "http://reg.genome.network/allele/PA2826160562", "coordinates": [ { "allele": "A", "end": 4935, "referenceAllele": "C", "start": 4934 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001190458.2:c.4832C>A" ], "proteinEffect": { "hgvs": "NP_001177387.1:p.Ser1611Ter", "hgvsWellDefined": "NP_001177387.1:p.Ser1611_Ser1999delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679115" }, { "@id": "http://reg.genome.network/allele/PA2826190073", "coordinates": [ { "allele": "A", "end": 5031, "referenceAllele": "C", "start": 5030 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_001193536.2:c.4928C>A" ], "proteinEffect": { "hgvs": "NP_001180465.1:p.Ser1643Ter", "hgvsWellDefined": "NP_001180465.1:p.Ser1643_Ser2031delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713758" }, { "@id": "http://reg.genome.network/allele/PA658812820", "coordinates": [ { "allele": "A", "end": 5244, "referenceAllele": "C", "start": 5243 } ], "gene": "http://reg.genome.network/gene/GN019191", "geneNCBI_id": 81704, "geneSymbol": "DOCK8", "hgvs": [ "NM_203447.4:c.5132C>A" ], "proteinEffect": { "hgvs": "NP_982272.2:p.Ser1711Ter", "hgvsWellDefined": "NP_982272.2:p.Ser1711_Ser2099delinsProAspGluAspGlyValCysAlaGlyGlnTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaGluLeuPheSerThrGlyGlyLeuTyrGluThrValAsnGluValTyrLysLeuValIleProIleLeuGluAlaHisArgGluPheArgLysLeuThrLeuThrHisSerLysLeuGlnArgAlaPheAspSerIleValAsnLysAspHisLysArgMetPheGlyThrTyrPheArgValGlyPhePheGlySerLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuProGluIleSerHisArgLeuGluAlaPheTyrGlyGlnCysPheGlyAlaGluPheValGluValIleLysAspSerThrProValAspLysThrLysLeuAspProAsnLysAlaTyrIleGlnIleThrPheValGluProTyrPheAspGluTyrGluMetLysAspArgValThrTyrPheGluLysAsnPheAsnLeuArgArgPheMetTyrThrThrProPheThrLeuGluGlyArgProArgGlyGluLeuHisGluGlnTyrArgArgAsnThrValLeuThrThrMetHisAlaPheProTyrIleLysThrArgIleSerValIleGlnLysGluGluPheValLeuThrProIleGluValAlaIleGluAspMetLysLysLysThrLeuGlnLeuAlaValAlaIleAsnGlnGluProProAspAlaLysMetLeuGlnMetValLeuGlnGlySerValGlyAlaThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuAlaGluIleProAlaAspProLysLeuTyrArgHisHisAsnLysLeuArgLeuCysPheLysGluPheIleMetArgCysGlyGluAlaValGluLysAsnLysArgLeuIleThrAlaAspGlnArgGluTyrGlnGlnGluLeuLysLysAsnTyrAsnLysLeuLysGluAsnLeuArgProMetIleGluArgLysIleProGluLeuTyrLysProIlePheArgValGluSerGlnLysArgAspSerPheHisArgSerSerPheArgLysCysGluThrGlnLeuSerGlnGlySerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS730068", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432829.7:c.5132C>A" }, "RefSeq": { "hgvs": "NM_203447.4:c.5132C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000394888.3:p.Ser1711Ter" }, "RefSeq": { "hgvs": "NP_982272.2:p.Ser1711Ter" } } } } ], "type": "nucleotide" }