{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA163243", "communityStandardTitle": [ "NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=143181[alleleid]", "alleleId": 143181, "preferredName": "NM_001367561.1(DOCK7):c.3709C>T (p.Arg1237Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139537", "RCV": [ "RCV000128436" ], "variationId": 139537 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.62995020G>A?assembly=hg19", "id": "chr1:g.62995020G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.62529349G>A?assembly=hg38", "id": "chr1:g.62529349G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777484", "rs": 587777484 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 62529349, "referenceAllele": "G", "start": 62529348 } ], "hgvs": [ "NC_000001.11:g.62529349G>A", "CM000663.2:g.62529349G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 62995020, "referenceAllele": "G", "start": 62995019 } ], "hgvs": [ "NC_000001.10:g.62995020G>A", "CM000663.1:g.62995020G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 62767608, "referenceAllele": "G", "start": 62767607 } ], "hgvs": [ "NC_000001.9:g.62767608G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 164020, "referenceAllele": "C", "start": 164019 } ], "hgvs": [ "NG_033073.1:g.164020C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005405" }, { "coordinates": [ { "allele": "T", "end": 164020, "referenceAllele": "C", "start": 164019 } ], "hgvs": [ "NG_033073.2:g.164020C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673882" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3831, "referenceAllele": "C", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000635253.2:c.3709C>T" ], "proteinEffect": { "hgvs": "ENSP00000489124.1:p.Arg1237Ter", "hgvsWellDefined": "ENSP00000489124.1:p.Arg1237_Leu2140delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS762583", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000635253.2:c.3709C>T" }, "RefSeq": { "hgvs": "NM_001367561.1:c.3709C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000489124.1:p.Arg1237Ter" }, "RefSeq": { "hgvs": "NP_001354490.1:p.Arg1237Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3718, "referenceAllele": "C", "start": 3717 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000637208.1:c.*1829C>T" ], "proteinEffect": { "hgvs": "ENSP00000490079.1:n.*1829C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS763694" }, { "coordinates": [ { "allele": "T", "end": 1009, "referenceAllele": "C", "start": 1008 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000637255.1:c.1009C>T" ], "proteinEffect": { "hgvs": "ENSP00000490888.1:p.Arg337Ter", "hgvsWellDefined": "ENSP00000490888.1:p.Arg337_Leu1229delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS763731" }, { "coordinates": [ { "allele": "T", "end": 3709, "referenceAllele": "C", "start": 3708 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000251157.10:c.3709C>T" ], "proteinEffect": { "hgvs": "ENSP00000251157.6:p.Arg1237Ter", "hgvsWellDefined": "ENSP00000251157.6:p.Arg1237_Leu2131delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS249713" }, { "coordinates": [ { "allele": "T", "end": 3616, "referenceAllele": "C", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000340370.10:c.3616C>T" ], "proteinEffect": { "hgvs": "ENSP00000340742.5:p.Arg1206Ter", "hgvsWellDefined": "ENSP00000340742.5:p.Arg1206_Leu2109delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261081" }, { "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000454575.6:c.3709C>T" ], "proteinEffect": { "hgvs": "ENSP00000413583.2:p.Arg1237Ter", "hgvsWellDefined": "ENSP00000413583.2:p.Arg1237_Leu2129delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302627" }, { "coordinates": [ { "allele": "T", "end": 3616, "referenceAllele": "C", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000634264.1:c.3616C>T" ], "proteinEffect": { "hgvs": "ENSP00000489284.1:p.Arg1206Ter", "hgvsWellDefined": "ENSP00000489284.1:p.Arg1206_Leu2100delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407757" }, { "coordinates": [ { "allele": "T", "end": 3616, "referenceAllele": "C", "start": 3615 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000635123.1:c.3616C>T" ], "proteinEffect": { "hgvs": "ENSP00000489499.1:p.Arg1206Ter", "hgvsWellDefined": "ENSP00000489499.1:p.Arg1206_Leu2098delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS408038" }, { "coordinates": [ { "allele": "T", "end": 3709, "referenceAllele": "C", "start": 3708 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "ENST00000635253.1:c.3709C>T" ], "proteinEffect": { "hgvs": "ENSP00000489124.1:p.Arg1237Ter", "hgvsWellDefined": "ENSP00000489124.1:p.Arg1237_Leu2140delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS408083" }, { "@id": "http://reg.genome.network/allele/PA2826544780", "coordinates": [ { "allele": "T", "end": 3813, "referenceAllele": "C", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001271999.1:c.3709C>T" ], "proteinEffect": { "hgvs": "NP_001258928.1:p.Arg1237Ter", "hgvsWellDefined": "NP_001258928.1:p.Arg1237_Leu2129delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020768" }, { "@id": "http://reg.genome.network/allele/PA2826545759", "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001272000.1:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_001258929.1:p.Arg1206Ter", "hgvsWellDefined": "NP_001258929.1:p.Arg1206_Leu2100delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020769" }, { "@id": "http://reg.genome.network/allele/PA2826546768", "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001272001.1:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_001258930.1:p.Arg1206Ter", "hgvsWellDefined": "NP_001258930.1:p.Arg1206_Leu2098delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020770" }, { "@id": "http://reg.genome.network/allele/PA163244", "coordinates": [ { "allele": "T", "end": 3720, "referenceAllele": "C", "start": 3719 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_033407.3:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_212132.2:p.Arg1206Ter", "hgvsWellDefined": "NP_212132.2:p.Arg1206_Leu2109delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS039724" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_005271292.1:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_005271349.1:p.Arg1237Ter", "hgvsWellDefined": "XP_005271349.1:p.Arg1237_Leu2131delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066835" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542326.1:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540628.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540628.1:p.Arg1237_Leu2140delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109257" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542327.1:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540629.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540629.1:p.Arg1237_Leu2138delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109258" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542328.1:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540630.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540630.1:p.Arg1237_Leu2135delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109259" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542329.1:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540631.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540631.1:p.Arg1237_Lys1869delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluPheTyrLeuValTyrIlePheLeuPheAspSerMetLysThrSerLysAsnArgTyrHisProValValGlnSerSerGluGluGluIleLysMetLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109260" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542330.1:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540632.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540632.1:p.Arg1237_Leu1844delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluValSerSerCysGlyProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS109261" }, { "@id": "http://reg.genome.network/allele/PA2827337178", "coordinates": [ { "allele": "T", "end": 3813, "referenceAllele": "C", "start": 3812 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001330614.1:c.3709C>T" ], "proteinEffect": { "hgvs": "NP_001317543.1:p.Arg1237Ter", "hgvsWellDefined": "NP_001317543.1:p.Arg1237_Leu2131delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516956" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542326.2:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540628.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540628.1:p.Arg1237_Leu2140delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554765" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542327.2:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540629.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540629.1:p.Arg1237_Leu2138delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554766" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542328.2:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540630.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540630.1:p.Arg1237_Leu2135delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554767" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_011542330.2:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_011540632.1:p.Arg1237Ter", "hgvsWellDefined": "XP_011540632.1:p.Arg1237_Leu1844delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluValSerSerCysGlyProLysLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS554768" }, { "coordinates": [ { "allele": "T", "end": 3710, "referenceAllele": "C", "start": 3709 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_017002639.1:c.3616C>T" ], "proteinEffect": { "hgvs": "XP_016858128.1:p.Arg1206Ter", "hgvsWellDefined": "XP_016858128.1:p.Arg1206_Leu2107delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558575" }, { "coordinates": [ { "allele": "T", "end": 3803, "referenceAllele": "C", "start": 3802 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "XM_017002640.1:c.3709C>T" ], "proteinEffect": { "hgvs": "XP_016858129.1:p.Arg1237Ter", "hgvsWellDefined": "XP_016858129.1:p.Arg1237_Ser1863delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluPheTyrLeuValTyrIlePheLeuPheAspSerMetLysThrSerValIleLeuPhePheLeuLysAlaMetPheProSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS558576" }, { "@id": "http://reg.genome.network/allele/PA916046441", "coordinates": [ { "allele": "T", "end": 3831, "referenceAllele": "C", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001367561.1:c.3709C>T" ], "proteinEffect": { "hgvs": "NP_001354490.1:p.Arg1237Ter", "hgvsWellDefined": "NP_001354490.1:p.Arg1237_Leu2140delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS664667", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000635253.2:c.3709C>T" }, "RefSeq": { "hgvs": "NM_001367561.1:c.3709C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000489124.1:p.Arg1237Ter" }, "RefSeq": { "hgvs": "NP_001354490.1:p.Arg1237Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826544780", "coordinates": [ { "allele": "T", "end": 3831, "referenceAllele": "C", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001271999.2:c.3709C>T" ], "proteinEffect": { "hgvs": "NP_001258928.1:p.Arg1237Ter", "hgvsWellDefined": "NP_001258928.1:p.Arg1237_Leu2129delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715342" }, { "@id": "http://reg.genome.network/allele/PA2826545759", "coordinates": [ { "allele": "T", "end": 3738, "referenceAllele": "C", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001272000.2:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_001258929.1:p.Arg1206Ter", "hgvsWellDefined": "NP_001258929.1:p.Arg1206_Leu2100delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715343" }, { "@id": "http://reg.genome.network/allele/PA2826546768", "coordinates": [ { "allele": "T", "end": 3738, "referenceAllele": "C", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001272001.2:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_001258930.1:p.Arg1206Ter", "hgvsWellDefined": "NP_001258930.1:p.Arg1206_Leu2098delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnAspGlyLysArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS715344" }, { "@id": "http://reg.genome.network/allele/PA2827337178", "coordinates": [ { "allele": "T", "end": 3831, "referenceAllele": "C", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_001330614.2:c.3709C>T" ], "proteinEffect": { "hgvs": "NP_001317543.1:p.Arg1237Ter", "hgvsWellDefined": "NP_001317543.1:p.Arg1237_Leu2131delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS718725" }, { "@id": "http://reg.genome.network/allele/PA163244", "coordinates": [ { "allele": "T", "end": 3738, "referenceAllele": "C", "start": 3737 } ], "gene": "http://reg.genome.network/gene/GN019190", "geneNCBI_id": 85440, "geneSymbol": "DOCK7", "hgvs": [ "NM_033407.4:c.3616C>T" ], "proteinEffect": { "hgvs": "NP_212132.2:p.Arg1206Ter", "hgvsWellDefined": "NP_212132.2:p.Arg1206_Leu2109delinsValAlaMetLeuTyrLeuProLeuIleGlyIleIleMetGluThrValProGlnLeuTyrAspPheThrGluThrHisAsnGlnArgGlyArgProIleCysIleAlaThrAspAspTyrGluSerGluSerGlySerMetIleSerGlnThrValAlaMetAlaIleAlaGlyThrSerValProGlnLeuThrArgProGlySerPheLeuLeuThrSerThrSerGlyArgGlnHisThrThrPheSerAlaGluSerSerArgSerLeuLeuIleCysLeuLeuTrpValLeuLysAsnAlaAspGluThrValLeuGlnLysTrpPheThrAspLeuSerValLeuGlnLeuAsnArgLeuLeuAspLeuLeuTyrLeuCysValSerCysPheGluTyrLysGlyLysLysValPheGluArgMetAsnSerLeuThrPheLysLysSerLysAspMetArgAlaLysLeuGluGluAlaIleLeuGlySerIleGlyAlaArgGlnGluMetValArgArgSerArgGlyGlnLeuGlyThrTyrThrIleAlaSerProProGluArgSerProSerGlySerAlaPheGlySerGlnGluAsnLeuArgTrpArgLysAspMetThrHisTrpArgGlnAsnThrGluLysLeuAspLysSerArgAlaGluIleGluHisGluAlaLeuIleAspGlyAsnLeuAlaThrGluAlaAsnLeuIleIleLeuAspThrLeuGluIleValValGlnThrValSerValThrGluSerLysGluSerIleLeuGlyGlyValLeuLysValLeuLeuHisSerMetAlaCysAsnGlnSerAlaValTyrLeuGlnHisCysPheAlaThrGlnArgAlaLeuValSerLysPheProGluLeuLeuPheGluGluGluThrGluGlnCysAlaAspLeuCysLeuArgLeuLeuArgHisCysSerSerSerIleGlyThrIleArgSerHisAlaSerAlaSerLeuTyrLeuLeuMetArgGlnAsnPheGluIleGlyAsnAsnPheAlaArgValLysMetGlnValThrMetSerLeuSerSerLeuValGlyThrSerGlnAsnPheAsnGluGluPheLeuArgArgSerLeuLysThrIleLeuThrTyrAlaGluGluAspLeuGluLeuArgGluThrThrPheProAspGlnValGlnAspLeuValPheAsnLeuHisMetIleLeuSerAspThrValLysMetLysGluHisGlnGluAspProGluMetLeuIleAspLeuMetTyrArgIleAlaLysGlyTyrGlnThrSerProAspLeuArgLeuThrTrpLeuGlnAsnMetAlaGlyLysHisSerGluArgSerAsnHisAlaGluAlaAlaGlnCysLeuValHisSerAlaAlaLeuValAlaGluTyrLeuSerMetLeuGluAspArgLysTyrLeuProValGlyCysValThrPheGlnAsnIleSerSerAsnValLeuGluGluSerAlaValSerAspAspValValSerProAspGluGluGlyIleCysSerGlyLysTyrPheThrGluSerGlyLeuValGlyLeuLeuGluGlnAlaAlaAlaSerPheSerMetAlaGlyMetTyrGluAlaValAsnGluValTyrLysValLeuIleProIleHisGluAlaAsnArgAspAlaLysLysLeuSerThrIleHisGlyLysLeuGlnGluAlaPheSerLysIleValHisGlnSerThrGlyTrpGluArgMetPheGlyThrTyrPheArgValGlyPheTyrGlyThrLysPheGlyAspLeuAspGluGlnGluPheValTyrLysGluProAlaIleThrLysLeuAlaGluIleSerHisArgLeuGluGlyPheTyrGlyGluArgPheGlyGluAspValValGluValIleLysAspSerAsnProValAspLysCysLysLeuAspProAsnLysAlaTyrIleGlnIleThrTyrValGluProTyrPheAspThrTyrGluMetLysAspArgIleThrTyrPheAspLysAsnTyrAsnLeuArgArgPheMetTyrCysThrProPheThrLeuAspGlyArgAlaHisGlyGluLeuHisGluGlnPheLysArgLysThrIleLeuThrThrSerHisAlaPheProTyrIleLysThrArgValAsnValThrHisLysGluGluIleIleLeuThrProIleGluValAlaIleGluAspMetGlnLysLysThrGlnGluLeuAlaPheAlaThrHisGlnAspProAlaAspProLysMetLeuGlnMetValLeuGlnGlySerValGlyThrThrValAsnGlnGlyProLeuGluValAlaGlnValPheLeuSerGluIleProSerAspProLysLeuPheArgHisHisAsnLysLeuArgLeuCysPheLysAspPheThrLysArgCysGluAspAlaLeuArgLysAsnLysSerLeuIleGlyProAspGlnLysGluTyrGlnArgGluLeuGluArgAsnTyrHisArgLeuLysGluAlaLeuGlnProLeuIleAsnArgLysIleProGlnLeuTyrLysAlaValLeuProValThrCysHisArgAspSerPheSerArgMetSerLeuArgLysMetAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728953" } ], "type": "nucleotide" }