{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16618989", "communityStandardTitle": [ "NM_012330.4(KAT6B):c.3286G>T (p.Glu1096Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407914[alleleid]", "alleleId": 407914, "preferredName": "NM_012330.4(KAT6B):c.3286G>T (p.Glu1096Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424129", "RCV": [ "RCV000484958" ], "variationId": 424129 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.76781903G>T?assembly=hg19", "id": "chr10:g.76781903G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.75022145G>T?assembly=hg38", "id": "chr10:g.75022145G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/770674400", "rs": 770674400 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 75022145, "referenceAllele": "G", "start": 75022144 } ], "hgvs": [ "NC_000010.11:g.75022145G>T", "CM000672.2:g.75022145G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 76781903, "referenceAllele": "G", "start": 76781902 } ], "hgvs": [ "NC_000010.10:g.76781903G>T", "CM000672.1:g.76781903G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 76451909, "referenceAllele": "G", "start": 76451908 } ], "hgvs": [ "NC_000010.9:g.76451909G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 200733, "referenceAllele": "G", "start": 200732 } ], "hgvs": [ "NG_032048.1:g.200733G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005108" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3800, "referenceAllele": "G", "start": 3799 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000287239.10:c.3286G>T" ], "proteinEffect": { "hgvs": "ENSP00000287239.4:p.Glu1096Ter", "hgvsWellDefined": "ENSP00000287239.4:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743891", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000287239.10:c.3286G>T" }, "RefSeq": { "hgvs": "NM_012330.4:c.3286G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000287239.4:p.Glu1096Ter" }, "RefSeq": { "hgvs": "NP_036462.2:p.Glu1096Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3122, "referenceAllele": "G", "start": 3121 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372711.2:c.2737G>T" ], "proteinEffect": { "hgvs": "ENSP00000361796.1:p.Glu913Ter", "hgvsWellDefined": "ENSP00000361796.1:p.Glu921_Arg1890delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751065" }, { "coordinates": [ { "allele": "T", "end": 2892, "referenceAllele": "G", "start": 2891 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372714.6:c.2410G>T" ], "proteinEffect": { "hgvs": "ENSP00000361799.1:p.Glu804Ter", "hgvsWellDefined": "ENSP00000361799.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751066" }, { "coordinates": [ { "allele": "T", "end": 3402, "referenceAllele": "G", "start": 3401 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372724.6:c.2737G>T" ], "proteinEffect": { "hgvs": "ENSP00000361809.2:p.Glu913Ter", "hgvsWellDefined": "ENSP00000361809.2:p.Glu921_Arg1890delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751069" }, { "coordinates": [ { "allele": "T", "end": 2844, "referenceAllele": "G", "start": 2843 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372725.6:c.2410G>T" ], "proteinEffect": { "hgvs": "ENSP00000361810.1:p.Glu804Ter", "hgvsWellDefined": "ENSP00000361810.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751070" }, { "coordinates": [ { "allele": "T", "end": 3831, "referenceAllele": "G", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648048.1:c.3286G>T" ], "proteinEffect": { "hgvs": "ENSP00000497325.1:p.Glu1096Ter", "hgvsWellDefined": "ENSP00000497325.1:p.Glu1096_Ser1387del" }, "referenceSequence": "http://reg.genome.network/refseq/RS769760" }, { "coordinates": [ { "allele": "T", "end": 3205, "referenceAllele": "G", "start": 3204 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648370.1:c.2737G>T" ], "proteinEffect": { "hgvs": "ENSP00000497804.1:p.Glu913Ter", "hgvsWellDefined": "ENSP00000497804.1:p.Glu913Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769939" }, { "coordinates": [ { "allele": "T", "end": 4035, "referenceAllele": "G", "start": 4034 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648725.1:c.3286G>T" ], "proteinEffect": { "hgvs": "ENSP00000497841.1:p.Glu1096Ter", "hgvsWellDefined": "ENSP00000497841.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770141" }, { "coordinates": [ { "allele": "T", "end": 3764, "referenceAllele": "G", "start": 3763 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648793.1:n.3764G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770179" }, { "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "G", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648892.1:c.2410G>T" ], "proteinEffect": { "hgvs": "ENSP00000497048.1:p.Glu804Ter", "hgvsWellDefined": "ENSP00000497048.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770239" }, { "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "G", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649006.1:c.2410G>T" ], "proteinEffect": { "hgvs": "ENSP00000498139.1:p.Glu804Ter", "hgvsWellDefined": "ENSP00000498139.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770303" }, { "coordinates": [ { "allele": "T", "end": 1601, "referenceAllele": "G", "start": 1600 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649305.1:n.1601G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS770465" }, { "coordinates": [ { "allele": "T", "end": 3178, "referenceAllele": "G", "start": 3177 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649375.1:c.2737G>T" ], "proteinEffect": { "hgvs": "ENSP00000498141.1:p.Glu913Ter", "hgvsWellDefined": "ENSP00000498141.1:p.Glu913_Leu946del" }, "referenceSequence": "http://reg.genome.network/refseq/RS770502" }, { "coordinates": [ { "allele": "T", "end": 3797, "referenceAllele": "G", "start": 3796 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649463.1:c.3286G>T" ], "proteinEffect": { "hgvs": "ENSP00000497166.1:p.Glu1096Ter", "hgvsWellDefined": "ENSP00000497166.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770558" }, { "coordinates": [ { "allele": "T", "end": 2627, "referenceAllele": "G", "start": 2626 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000650232.1:c.2221G>T" ], "proteinEffect": { "hgvs": "ENSP00000497570.1:p.Glu741Ter", "hgvsWellDefined": "ENSP00000497570.1:p.Glu741Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS771004" }, { "coordinates": [ { "allele": "T", "end": 2331, "referenceAllele": "G", "start": 2330 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000650610.1:n.2331G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS771210" }, { "coordinates": [ { "allele": "T", "end": 3775, "referenceAllele": "G", "start": 3774 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000287239.8:c.3286G>T" ], "proteinEffect": { "hgvs": "ENSP00000287239.4:p.Glu1096Ter", "hgvsWellDefined": "ENSP00000287239.4:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253425" }, { "coordinates": [ { "allele": "T", "end": 3048, "referenceAllele": "G", "start": 3047 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372711.1:c.2737G>T" ], "proteinEffect": { "hgvs": "ENSP00000361796.1:p.Glu913Ter", "hgvsWellDefined": "ENSP00000361796.1:p.Glu921_Arg1890delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269263" }, { "coordinates": [ { "allele": "T", "end": 2812, "referenceAllele": "G", "start": 2811 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372714.5:c.2410G>T" ], "proteinEffect": { "hgvs": "ENSP00000361799.1:p.Glu804Ter", "hgvsWellDefined": "ENSP00000361799.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269265" }, { "coordinates": [ { "allele": "T", "end": 2924, "referenceAllele": "G", "start": 2923 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372724.5:c.2410G>T" ], "proteinEffect": { "hgvs": "ENSP00000361809.1:p.Glu804Ter", "hgvsWellDefined": "ENSP00000361809.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269272" }, { "coordinates": [ { "allele": "T", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372725.5:c.2410G>T" ], "proteinEffect": { "hgvs": "ENSP00000361810.1:p.Glu804Ter", "hgvsWellDefined": "ENSP00000361810.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269273" }, { "coordinates": [ { "allele": "T", "end": 5239, "referenceAllele": "G", "start": 5238 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000490365.1:n.5239G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS328206" }, { "@id": "http://reg.genome.network/allele/PA2826395713", "coordinates": [ { "allele": "T", "end": 3438, "referenceAllele": "G", "start": 3437 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256468.1:c.2737G>T" ], "proteinEffect": { "hgvs": "NP_001243397.1:p.Glu913Ter", "hgvsWellDefined": "NP_001243397.1:p.Glu921_Arg1890delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019268" }, { "@id": "http://reg.genome.network/allele/PA2826396561", "coordinates": [ { "allele": "T", "end": 3111, "referenceAllele": "G", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256469.1:c.2410G>T" ], "proteinEffect": { "hgvs": "NP_001243398.1:p.Glu804Ter", "hgvsWellDefined": "NP_001243398.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019269" }, { "@id": "http://reg.genome.network/allele/PA645468010", "coordinates": [ { "allele": "T", "end": 3987, "referenceAllele": "G", "start": 3986 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_012330.3:c.3286G>T" ], "proteinEffect": { "hgvs": "NP_036462.2:p.Glu1096Ter", "hgvsWellDefined": "NP_036462.2:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032507" }, { "coordinates": [ { "allele": "T", "end": 4048, "referenceAllele": "G", "start": 4047 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_005269664.2:c.3286G>T" ], "proteinEffect": { "hgvs": "XP_005269721.1:p.Glu1096Ter", "hgvsWellDefined": "XP_005269721.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066226" }, { "coordinates": [ { "allele": "T", "end": 3704, "referenceAllele": "G", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016000.2:c.3286G>T" ], "proteinEffect": { "hgvs": "XP_016871489.1:p.Glu1096Ter", "hgvsWellDefined": "XP_016871489.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568552" }, { "coordinates": [ { "allele": "T", "end": 3999, "referenceAllele": "G", "start": 3998 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016002.1:c.3286G>T" ], "proteinEffect": { "hgvs": "XP_016871491.1:p.Glu1096Ter", "hgvsWellDefined": "XP_016871491.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568553" }, { "coordinates": [ { "allele": "T", "end": 3670, "referenceAllele": "G", "start": 3669 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016003.1:c.3286G>T" ], "proteinEffect": { "hgvs": "XP_016871492.1:p.Glu1096Ter", "hgvsWellDefined": "XP_016871492.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568554" }, { "coordinates": [ { "allele": "T", "end": 3542, "referenceAllele": "G", "start": 3541 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016004.2:c.3124G>T" ], "proteinEffect": { "hgvs": "XP_016871493.1:p.Glu1042Ter", "hgvsWellDefined": "XP_016871493.1:p.Glu1050_Arg2019delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568555" }, { "coordinates": [ { "allele": "T", "end": 3155, "referenceAllele": "G", "start": 3154 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016005.2:c.2737G>T" ], "proteinEffect": { "hgvs": "XP_016871494.1:p.Glu913Ter", "hgvsWellDefined": "XP_016871494.1:p.Glu921_Arg1890delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568556" }, { "coordinates": [ { "allele": "T", "end": 2828, "referenceAllele": "G", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016006.2:c.2410G>T" ], "proteinEffect": { "hgvs": "XP_016871495.1:p.Glu804Ter", "hgvsWellDefined": "XP_016871495.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568557" }, { "coordinates": [ { "allele": "T", "end": 2794, "referenceAllele": "G", "start": 2793 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016008.2:c.2410G>T" ], "proteinEffect": { "hgvs": "XP_016871497.1:p.Glu804Ter", "hgvsWellDefined": "XP_016871497.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568558" }, { "coordinates": [ { "allele": "T", "end": 2949, "referenceAllele": "G", "start": 2948 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016009.1:c.2248G>T" ], "proteinEffect": { "hgvs": "XP_016871498.1:p.Glu750Ter", "hgvsWellDefined": "XP_016871498.1:p.Glu758_Arg1727delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568559" }, { "@id": "http://reg.genome.network/allele/PA645468010", "coordinates": [ { "allele": "T", "end": 3800, "referenceAllele": "G", "start": 3799 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_012330.4:c.3286G>T" ], "proteinEffect": { "hgvs": "NP_036462.2:p.Glu1096Ter", "hgvsWellDefined": "NP_036462.2:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000287239.10:c.3286G>T" }, "RefSeq": { "hgvs": "NM_012330.4:c.3286G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000287239.4:p.Glu1096Ter" }, "RefSeq": { "hgvs": "NP_036462.2:p.Glu1096Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828381036", "coordinates": [ { "allele": "T", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370132.1:c.2248G>T" ], "proteinEffect": { "hgvs": "NP_001357061.1:p.Glu750Ter", "hgvsWellDefined": "NP_001357061.1:p.Glu758_Arg1727delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692156" }, { "@id": "http://reg.genome.network/allele/PA2828381785", "coordinates": [ { "allele": "T", "end": 2121, "referenceAllele": "G", "start": 2120 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370133.1:c.1597G>T" ], "proteinEffect": { "hgvs": "NP_001357062.1:p.Glu533Ter", "hgvsWellDefined": "NP_001357062.1:p.Glu541_Arg1510delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692157" }, { "@id": "http://reg.genome.network/allele/PA2828382390", "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "G", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370134.1:c.1201G>T" ], "proteinEffect": { "hgvs": "NP_001357063.1:p.Glu401Ter", "hgvsWellDefined": "NP_001357063.1:p.Glu409_Arg1378delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692158" }, { "@id": "http://reg.genome.network/allele/PA2828383000", "coordinates": [ { "allele": "T", "end": 1995, "referenceAllele": "G", "start": 1994 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370135.1:c.943G>T" ], "proteinEffect": { "hgvs": "NP_001357064.1:p.Glu315Ter", "hgvsWellDefined": "NP_001357064.1:p.Glu323_Arg1292delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692159" }, { "@id": "http://reg.genome.network/allele/PA2828383958", "coordinates": [ { "allele": "T", "end": 3810, "referenceAllele": "G", "start": 3809 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370136.1:c.3286G>T" ], "proteinEffect": { "hgvs": "NP_001357065.1:p.Glu1096Ter", "hgvsWellDefined": "NP_001357065.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692160" }, { "@id": "http://reg.genome.network/allele/PA2828384837", "coordinates": [ { "allele": "T", "end": 3831, "referenceAllele": "G", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370137.1:c.3286G>T" ], "proteinEffect": { "hgvs": "NP_001357066.1:p.Glu1096Ter", "hgvsWellDefined": "NP_001357066.1:p.Glu1104_Arg2073delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692161" }, { "@id": "http://reg.genome.network/allele/PA916048139", "coordinates": [ { "allele": "T", "end": 3261, "referenceAllele": "G", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370138.1:c.2737G>T" ], "proteinEffect": { "hgvs": "NP_001357067.1:p.Glu913Ter", "hgvsWellDefined": "NP_001357067.1:p.Glu921_Arg1890delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692162" }, { "@id": "http://reg.genome.network/allele/PA2828386584", "coordinates": [ { "allele": "T", "end": 2871, "referenceAllele": "G", "start": 2870 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370139.1:c.2410G>T" ], "proteinEffect": { "hgvs": "NP_001357068.1:p.Glu804Ter", "hgvsWellDefined": "NP_001357068.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692163" }, { "@id": "http://reg.genome.network/allele/PA2828387432", "coordinates": [ { "allele": "T", "end": 2934, "referenceAllele": "G", "start": 2933 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370140.1:c.2410G>T" ], "proteinEffect": { "hgvs": "NP_001357069.1:p.Glu804Ter", "hgvsWellDefined": "NP_001357069.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692164" }, { "@id": "http://reg.genome.network/allele/PA2828388280", "coordinates": [ { "allele": "T", "end": 2864, "referenceAllele": "G", "start": 2863 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370141.1:c.2410G>T" ], "proteinEffect": { "hgvs": "NP_001357070.1:p.Glu804Ter", "hgvsWellDefined": "NP_001357070.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692165" }, { "@id": "http://reg.genome.network/allele/PA2828389128", "coordinates": [ { "allele": "T", "end": 2854, "referenceAllele": "G", "start": 2853 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370142.1:c.2410G>T" ], "proteinEffect": { "hgvs": "NP_001357071.1:p.Glu804Ter", "hgvsWellDefined": "NP_001357071.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692166" }, { "@id": "http://reg.genome.network/allele/PA2828389918", "coordinates": [ { "allele": "T", "end": 2675, "referenceAllele": "G", "start": 2674 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370143.1:c.2221G>T" ], "proteinEffect": { "hgvs": "NP_001357072.1:p.Glu741Ter", "hgvsWellDefined": "NP_001357072.1:p.Glu749_Arg1718delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692167" }, { "@id": "http://reg.genome.network/allele/PA2828390745", "coordinates": [ { "allele": "T", "end": 2735, "referenceAllele": "G", "start": 2734 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370144.1:c.2221G>T" ], "proteinEffect": { "hgvs": "NP_001357073.1:p.Glu741Ter", "hgvsWellDefined": "NP_001357073.1:p.Glu749_Arg1718delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692168" }, { "@id": "http://reg.genome.network/allele/PA2826395713", "coordinates": [ { "allele": "T", "end": 3251, "referenceAllele": "G", "start": 3250 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256468.2:c.2737G>T" ], "proteinEffect": { "hgvs": "NP_001243397.1:p.Glu913Ter", "hgvsWellDefined": "NP_001243397.1:p.Glu921_Arg1890delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714770" }, { "@id": "http://reg.genome.network/allele/PA2826396561", "coordinates": [ { "allele": "T", "end": 2924, "referenceAllele": "G", "start": 2923 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256469.2:c.2410G>T" ], "proteinEffect": { "hgvs": "NP_001243398.1:p.Glu804Ter", "hgvsWellDefined": "NP_001243398.1:p.Glu812_Arg1781delinsAsnIleGlnSerSerProProArgLeuThrLysProGlnSerValAlaIleLysArgLysArgProPheValLeuLysLysLysArgGlyArgLysArgArgArgIleAsnSerSerValThrThrGluThrIleSerGluThrThrGluValLeuAsnGluProPheAspAsnSerAspGluGluArgProMetProGlnLeuGluProThrCysGluIleGluValGluGluAspGlyArgLysProValLeuArgLysAlaPheGlnHisGlnProGlyLysLysArgGlnThrGluGluGluGluGlyLysAspAsnHisCysPheLysAsnAlaAspProCysArgAsnAsnMetAsnAspAspSerSerAsnLeuLysGluGlySerLysAspAsnProGluProLeuLysCysLysGlnValTrpProLysGlyThrLysArgGlyLeuSerLysTrpArgGlnAsnLysGluArgLysThrGlyPheLysLeuAsnLeuTyrThrProProGluThrProMetGluProAspGluGlnValThrValGluGluGlnLysGluThrSerGluGlyLysThrSerProSerProIleArgIleGluGluGluValLysGluThrGlyGluAlaLeuLeuProGlnGluGluAsnArgArgGluGluThrCysAlaProValSerProAsnThrSerProGlyGluLysProGluAspAspLeuIleLysProGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGluGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714771" } ], "type": "nucleotide" }