{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA377295525", "communityStandardTitle": [ "NM_012330.4(KAT6B):c.4093G>T (p.Glu1365Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.76788675G>T?assembly=hg19", "id": "chr10:g.76788675G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.75028917G>T?assembly=hg38", "id": "chr10:g.75028917G>T" } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 75028917, "referenceAllele": "G", "start": 75028916 } ], "hgvs": [ "NC_000010.11:g.75028917G>T", "CM000672.2:g.75028917G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 76788675, "referenceAllele": "G", "start": 76788674 } ], "hgvs": [ "NC_000010.10:g.76788675G>T", "CM000672.1:g.76788675G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 76458681, "referenceAllele": "G", "start": 76458680 } ], "hgvs": [ "NC_000010.9:g.76458681G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 207505, "referenceAllele": "G", "start": 207504 } ], "hgvs": [ "NG_032048.1:g.207505G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005108" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4607, "referenceAllele": "G", "start": 4606 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000287239.10:c.4093G>T" ], "proteinEffect": { "hgvs": "ENSP00000287239.4:p.Glu1365Ter", "hgvsWellDefined": "ENSP00000287239.4:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS743891", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000287239.10:c.4093G>T" }, "RefSeq": { "hgvs": "NM_012330.4:c.4093G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000287239.4:p.Glu1365Ter" }, "RefSeq": { "hgvs": "NP_036462.2:p.Glu1365Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3929, "referenceAllele": "G", "start": 3928 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372711.2:c.3544G>T" ], "proteinEffect": { "hgvs": "ENSP00000361796.1:p.Glu1182Ter", "hgvsWellDefined": "ENSP00000361796.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751065" }, { "coordinates": [ { "allele": "T", "end": 3699, "referenceAllele": "G", "start": 3698 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372714.6:c.3217G>T" ], "proteinEffect": { "hgvs": "ENSP00000361799.1:p.Glu1073Ter", "hgvsWellDefined": "ENSP00000361799.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751066" }, { "coordinates": [ { "allele": "T", "end": 4209, "referenceAllele": "G", "start": 4208 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372724.6:c.3544G>T" ], "proteinEffect": { "hgvs": "ENSP00000361809.2:p.Glu1182Ter", "hgvsWellDefined": "ENSP00000361809.2:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751069" }, { "coordinates": [ { "allele": "T", "end": 3651, "referenceAllele": "G", "start": 3650 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372725.6:c.3217G>T" ], "proteinEffect": { "hgvs": "ENSP00000361810.1:p.Glu1073Ter", "hgvsWellDefined": "ENSP00000361810.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751070" }, { "coordinates": [ { "allele": "T", "end": 4638, "referenceAllele": "G", "start": 4637 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648048.1:c.4093G>T" ], "proteinEffect": { "hgvs": "ENSP00000497325.1:p.Glu1365Ter", "hgvsWellDefined": "ENSP00000497325.1:p.Glu1365_Ser1387del" }, "referenceSequence": "http://reg.genome.network/refseq/RS769760" }, { "coordinates": [ { "allele": "T", "end": 4012, "referenceAllele": "G", "start": 4011 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648370.1:c.3544G>T" ], "proteinEffect": { "hgvs": "ENSP00000497804.1:p.Glu1182Ter", "hgvsWellDefined": "ENSP00000497804.1:p.Glu1182Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769939" }, { "coordinates": [ { "allele": "T", "end": 4842, "referenceAllele": "G", "start": 4841 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648725.1:c.4093G>T" ], "proteinEffect": { "hgvs": "ENSP00000497841.1:p.Glu1365Ter", "hgvsWellDefined": "ENSP00000497841.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770141" }, { "coordinates": [ { "allele": "T", "end": 3918, "referenceAllele": "G", "start": 3917 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648892.1:c.3217G>T" ], "proteinEffect": { "hgvs": "ENSP00000497048.1:p.Glu1073Ter", "hgvsWellDefined": "ENSP00000497048.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770239" }, { "coordinates": [ { "allele": "T", "end": 3527, "referenceAllele": "G", "start": 3526 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649006.1:c.3217G>T" ], "proteinEffect": { "hgvs": "ENSP00000498139.1:p.Glu1073Ter", "hgvsWellDefined": "ENSP00000498139.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770303" }, { "coordinates": [ { "allele": "T", "end": 4604, "referenceAllele": "G", "start": 4603 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649463.1:c.4093G>T" ], "proteinEffect": { "hgvs": "ENSP00000497166.1:p.Glu1365Ter", "hgvsWellDefined": "ENSP00000497166.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770558" }, { "coordinates": [ { "allele": "T", "end": 4582, "referenceAllele": "G", "start": 4581 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000287239.8:c.4093G>T" ], "proteinEffect": { "hgvs": "ENSP00000287239.4:p.Glu1365Ter", "hgvsWellDefined": "ENSP00000287239.4:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253425" }, { "coordinates": [ { "allele": "T", "end": 3855, "referenceAllele": "G", "start": 3854 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372711.1:c.3544G>T" ], "proteinEffect": { "hgvs": "ENSP00000361796.1:p.Glu1182Ter", "hgvsWellDefined": "ENSP00000361796.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269263" }, { "coordinates": [ { "allele": "T", "end": 3619, "referenceAllele": "G", "start": 3618 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372714.5:c.3217G>T" ], "proteinEffect": { "hgvs": "ENSP00000361799.1:p.Glu1073Ter", "hgvsWellDefined": "ENSP00000361799.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269265" }, { "coordinates": [ { "allele": "T", "end": 3731, "referenceAllele": "G", "start": 3730 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372724.5:c.3217G>T" ], "proteinEffect": { "hgvs": "ENSP00000361809.1:p.Glu1073Ter", "hgvsWellDefined": "ENSP00000361809.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269272" }, { "coordinates": [ { "allele": "T", "end": 3568, "referenceAllele": "G", "start": 3567 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372725.5:c.3217G>T" ], "proteinEffect": { "hgvs": "ENSP00000361810.1:p.Glu1073Ter", "hgvsWellDefined": "ENSP00000361810.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269273" }, { "coordinates": [ { "allele": "T", "end": 4245, "referenceAllele": "G", "start": 4244 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256468.1:c.3544G>T" ], "proteinEffect": { "hgvs": "NP_001243397.1:p.Glu1182Ter", "hgvsWellDefined": "NP_001243397.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019268" }, { "coordinates": [ { "allele": "T", "end": 3918, "referenceAllele": "G", "start": 3917 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256469.1:c.3217G>T" ], "proteinEffect": { "hgvs": "NP_001243398.1:p.Glu1073Ter", "hgvsWellDefined": "NP_001243398.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019269" }, { "coordinates": [ { "allele": "T", "end": 4794, "referenceAllele": "G", "start": 4793 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_012330.3:c.4093G>T" ], "proteinEffect": { "hgvs": "NP_036462.2:p.Glu1365Ter", "hgvsWellDefined": "NP_036462.2:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032507" }, { "coordinates": [ { "allele": "T", "end": 4855, "referenceAllele": "G", "start": 4854 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_005269664.2:c.4093G>T" ], "proteinEffect": { "hgvs": "XP_005269721.1:p.Glu1365Ter", "hgvsWellDefined": "XP_005269721.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066226" }, { "coordinates": [ { "allele": "A", "end": 576, "endIntronDirection": "-", "endIntronOffset": 2322, "referenceAllele": "C", "start": 576, "startIntronDirection": "-", "startIntronOffset": 2323 } ], "hgvs": [ "XR_946064.1:n.577-2323C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139652" }, { "coordinates": [ { "allele": "A", "end": 4704, "endIntronDirection": "-", "endIntronOffset": 2322, "referenceAllele": "C", "start": 4704, "startIntronDirection": "-", "startIntronOffset": 2323 } ], "gene": "http://reg.genome.network/gene/GN023481", "geneNCBI_id": 338599, "geneSymbol": "DUSP29", "hgvs": [ "XM_011539747.2:c.*3622-2323C>A" ], "proteinEffect": { "hgvs": "XP_011538049.1:n.*3622-2323C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS553774" }, { "coordinates": [ { "allele": "T", "end": 4511, "referenceAllele": "G", "start": 4510 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016000.2:c.4093G>T" ], "proteinEffect": { "hgvs": "XP_016871489.1:p.Glu1365Ter", "hgvsWellDefined": "XP_016871489.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568552" }, { "coordinates": [ { "allele": "T", "end": 4806, "referenceAllele": "G", "start": 4805 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016002.1:c.4093G>T" ], "proteinEffect": { "hgvs": "XP_016871491.1:p.Glu1365Ter", "hgvsWellDefined": "XP_016871491.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568553" }, { "coordinates": [ { "allele": "T", "end": 4477, "referenceAllele": "G", "start": 4476 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016003.1:c.4093G>T" ], "proteinEffect": { "hgvs": "XP_016871492.1:p.Glu1365Ter", "hgvsWellDefined": "XP_016871492.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568554" }, { "coordinates": [ { "allele": "T", "end": 4349, "referenceAllele": "G", "start": 4348 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016004.2:c.3931G>T" ], "proteinEffect": { "hgvs": "XP_016871493.1:p.Glu1311Ter", "hgvsWellDefined": "XP_016871493.1:p.Glu1314_Arg2019delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568555" }, { "coordinates": [ { "allele": "T", "end": 3962, "referenceAllele": "G", "start": 3961 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016005.2:c.3544G>T" ], "proteinEffect": { "hgvs": "XP_016871494.1:p.Glu1182Ter", "hgvsWellDefined": "XP_016871494.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568556" }, { "coordinates": [ { "allele": "T", "end": 3635, "referenceAllele": "G", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016006.2:c.3217G>T" ], "proteinEffect": { "hgvs": "XP_016871495.1:p.Glu1073Ter", "hgvsWellDefined": "XP_016871495.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568557" }, { "coordinates": [ { "allele": "T", "end": 3601, "referenceAllele": "G", "start": 3600 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016008.2:c.3217G>T" ], "proteinEffect": { "hgvs": "XP_016871497.1:p.Glu1073Ter", "hgvsWellDefined": "XP_016871497.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568558" }, { "coordinates": [ { "allele": "T", "end": 3756, "referenceAllele": "G", "start": 3755 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016009.1:c.3055G>T" ], "proteinEffect": { "hgvs": "XP_016871498.1:p.Glu1019Ter", "hgvsWellDefined": "XP_016871498.1:p.Glu1022_Arg1727delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568559" }, { "coordinates": [ { "allele": "T", "end": 4607, "referenceAllele": "G", "start": 4606 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_012330.4:c.4093G>T" ], "proteinEffect": { "hgvs": "NP_036462.2:p.Glu1365Ter", "hgvsWellDefined": "NP_036462.2:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668010", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000287239.10:c.4093G>T" }, "RefSeq": { "hgvs": "NM_012330.4:c.4093G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000287239.4:p.Glu1365Ter" }, "RefSeq": { "hgvs": "NP_036462.2:p.Glu1365Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3569, "referenceAllele": "G", "start": 3568 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370132.1:c.3055G>T" ], "proteinEffect": { "hgvs": "NP_001357061.1:p.Glu1019Ter", "hgvsWellDefined": "NP_001357061.1:p.Glu1022_Arg1727delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692156" }, { "coordinates": [ { "allele": "T", "end": 2928, "referenceAllele": "G", "start": 2927 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370133.1:c.2404G>T" ], "proteinEffect": { "hgvs": "NP_001357062.1:p.Glu802Ter", "hgvsWellDefined": "NP_001357062.1:p.Glu805_Arg1510delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692157" }, { "coordinates": [ { "allele": "T", "end": 3070, "referenceAllele": "G", "start": 3069 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370134.1:c.2008G>T" ], "proteinEffect": { "hgvs": "NP_001357063.1:p.Glu670Ter", "hgvsWellDefined": "NP_001357063.1:p.Glu673_Arg1378delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692158" }, { "coordinates": [ { "allele": "T", "end": 2802, "referenceAllele": "G", "start": 2801 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370135.1:c.1750G>T" ], "proteinEffect": { "hgvs": "NP_001357064.1:p.Glu584Ter", "hgvsWellDefined": "NP_001357064.1:p.Glu587_Arg1292delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692159" }, { "coordinates": [ { "allele": "T", "end": 4617, "referenceAllele": "G", "start": 4616 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370136.1:c.4093G>T" ], "proteinEffect": { "hgvs": "NP_001357065.1:p.Glu1365Ter", "hgvsWellDefined": "NP_001357065.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692160" }, { "coordinates": [ { "allele": "T", "end": 4638, "referenceAllele": "G", "start": 4637 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370137.1:c.4093G>T" ], "proteinEffect": { "hgvs": "NP_001357066.1:p.Glu1365Ter", "hgvsWellDefined": "NP_001357066.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692161" }, { "coordinates": [ { "allele": "T", "end": 4068, "referenceAllele": "G", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370138.1:c.3544G>T" ], "proteinEffect": { "hgvs": "NP_001357067.1:p.Glu1182Ter", "hgvsWellDefined": "NP_001357067.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692162" }, { "coordinates": [ { "allele": "T", "end": 3678, "referenceAllele": "G", "start": 3677 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370139.1:c.3217G>T" ], "proteinEffect": { "hgvs": "NP_001357068.1:p.Glu1073Ter", "hgvsWellDefined": "NP_001357068.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692163" }, { "coordinates": [ { "allele": "T", "end": 3741, "referenceAllele": "G", "start": 3740 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370140.1:c.3217G>T" ], "proteinEffect": { "hgvs": "NP_001357069.1:p.Glu1073Ter", "hgvsWellDefined": "NP_001357069.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692164" }, { "coordinates": [ { "allele": "T", "end": 3671, "referenceAllele": "G", "start": 3670 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370141.1:c.3217G>T" ], "proteinEffect": { "hgvs": "NP_001357070.1:p.Glu1073Ter", "hgvsWellDefined": "NP_001357070.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692165" }, { "coordinates": [ { "allele": "T", "end": 3661, "referenceAllele": "G", "start": 3660 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370142.1:c.3217G>T" ], "proteinEffect": { "hgvs": "NP_001357071.1:p.Glu1073Ter", "hgvsWellDefined": "NP_001357071.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692166" }, { "coordinates": [ { "allele": "T", "end": 3482, "referenceAllele": "G", "start": 3481 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370143.1:c.3028G>T" ], "proteinEffect": { "hgvs": "NP_001357072.1:p.Glu1010Ter", "hgvsWellDefined": "NP_001357072.1:p.Glu1013_Arg1718delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692167" }, { "coordinates": [ { "allele": "T", "end": 3542, "referenceAllele": "G", "start": 3541 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370144.1:c.3028G>T" ], "proteinEffect": { "hgvs": "NP_001357073.1:p.Glu1010Ter", "hgvsWellDefined": "NP_001357073.1:p.Glu1013_Arg1718delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692168" }, { "coordinates": [ { "allele": "T", "end": 4058, "referenceAllele": "G", "start": 4057 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256468.2:c.3544G>T" ], "proteinEffect": { "hgvs": "NP_001243397.1:p.Glu1182Ter", "hgvsWellDefined": "NP_001243397.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714770" }, { "coordinates": [ { "allele": "T", "end": 3731, "referenceAllele": "G", "start": 3730 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256469.2:c.3217G>T" ], "proteinEffect": { "hgvs": "NP_001243398.1:p.Glu1073Ter", "hgvsWellDefined": "NP_001243398.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714771" } ], "type": "nucleotide" }