{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA129312", "communityStandardTitle": [ "NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39485[alleleid]", "alleleId": 39485, "preferredName": "NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30528", "RCV": [ "RCV000023485", "RCV000128651" ], "variationId": 30528 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.76788651G>T?assembly=hg19", "id": "chr10:g.76788651G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.75028893G>T?assembly=hg38", "id": "chr10:g.75028893G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/199470476", "rs": 199470476 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 75028893, "referenceAllele": "G", "start": 75028892 } ], "hgvs": [ "NC_000010.11:g.75028893G>T", "CM000672.2:g.75028893G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 76788651, "referenceAllele": "G", "start": 76788650 } ], "hgvs": [ "NC_000010.10:g.76788651G>T", "CM000672.1:g.76788651G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 76458657, "referenceAllele": "G", "start": 76458656 } ], "hgvs": [ "NC_000010.9:g.76458657G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 207481, "referenceAllele": "G", "start": 207480 } ], "hgvs": [ "NG_032048.1:g.207481G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005108" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 4583, "referenceAllele": "G", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000287239.10:c.4069G>T" ], "proteinEffect": { "hgvs": "ENSP00000287239.4:p.Glu1357Ter", "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.4069G>T" }, "RefSeq": { "hgvs": "NM_012330.4:c.4069G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000287239.4:p.Glu1357Ter" }, "RefSeq": { "hgvs": "NP_036462.2:p.Glu1357Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3905, "referenceAllele": "G", "start": 3904 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372711.2:c.3520G>T" ], "proteinEffect": { "hgvs": "ENSP00000361796.1:p.Glu1174Ter", "hgvsWellDefined": "ENSP00000361796.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751065" }, { "coordinates": [ { "allele": "T", "end": 3675, "referenceAllele": "G", "start": 3674 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372714.6:c.3193G>T" ], "proteinEffect": { "hgvs": "ENSP00000361799.1:p.Glu1065Ter", "hgvsWellDefined": "ENSP00000361799.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751066" }, { "coordinates": [ { "allele": "T", "end": 4185, "referenceAllele": "G", "start": 4184 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372724.6:c.3520G>T" ], "proteinEffect": { "hgvs": "ENSP00000361809.2:p.Glu1174Ter", "hgvsWellDefined": "ENSP00000361809.2:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751069" }, { "coordinates": [ { "allele": "T", "end": 3627, "referenceAllele": "G", "start": 3626 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372725.6:c.3193G>T" ], "proteinEffect": { "hgvs": "ENSP00000361810.1:p.Glu1065Ter", "hgvsWellDefined": "ENSP00000361810.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751070" }, { "coordinates": [ { "allele": "T", "end": 4614, "referenceAllele": "G", "start": 4613 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648048.1:c.4069G>T" ], "proteinEffect": { "hgvs": "ENSP00000497325.1:p.Glu1357Ter", "hgvsWellDefined": "ENSP00000497325.1:p.Glu1357_Ser1387del" }, "referenceSequence": "http://reg.genome.network/refseq/RS769760" }, { "coordinates": [ { "allele": "T", "end": 3988, "referenceAllele": "G", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648370.1:c.3520G>T" ], "proteinEffect": { "hgvs": "ENSP00000497804.1:p.Glu1174Ter", "hgvsWellDefined": "ENSP00000497804.1:p.Glu1174Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769939" }, { "coordinates": [ { "allele": "T", "end": 4818, "referenceAllele": "G", "start": 4817 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648725.1:c.4069G>T" ], "proteinEffect": { "hgvs": "ENSP00000497841.1:p.Glu1357Ter", "hgvsWellDefined": "ENSP00000497841.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770141" }, { "coordinates": [ { "allele": "T", "end": 3894, "referenceAllele": "G", "start": 3893 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000648892.1:c.3193G>T" ], "proteinEffect": { "hgvs": "ENSP00000497048.1:p.Glu1065Ter", "hgvsWellDefined": "ENSP00000497048.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770239" }, { "coordinates": [ { "allele": "T", "end": 3503, "referenceAllele": "G", "start": 3502 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649006.1:c.3193G>T" ], "proteinEffect": { "hgvs": "ENSP00000498139.1:p.Glu1065Ter", "hgvsWellDefined": "ENSP00000498139.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770303" }, { "coordinates": [ { "allele": "T", "end": 4580, "referenceAllele": "G", "start": 4579 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000649463.1:c.4069G>T" ], "proteinEffect": { "hgvs": "ENSP00000497166.1:p.Glu1357Ter", "hgvsWellDefined": "ENSP00000497166.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS770558" }, { "coordinates": [ { "allele": "T", "end": 4558, "referenceAllele": "G", "start": 4557 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000287239.8:c.4069G>T" ], "proteinEffect": { "hgvs": "ENSP00000287239.4:p.Glu1357Ter", "hgvsWellDefined": "ENSP00000287239.4:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS253425" }, { "coordinates": [ { "allele": "T", "end": 3831, "referenceAllele": "G", "start": 3830 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372711.1:c.3520G>T" ], "proteinEffect": { "hgvs": "ENSP00000361796.1:p.Glu1174Ter", "hgvsWellDefined": "ENSP00000361796.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269263" }, { "coordinates": [ { "allele": "T", "end": 3595, "referenceAllele": "G", "start": 3594 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372714.5:c.3193G>T" ], "proteinEffect": { "hgvs": "ENSP00000361799.1:p.Glu1065Ter", "hgvsWellDefined": "ENSP00000361799.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269265" }, { "coordinates": [ { "allele": "T", "end": 3707, "referenceAllele": "G", "start": 3706 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372724.5:c.3193G>T" ], "proteinEffect": { "hgvs": "ENSP00000361809.1:p.Glu1065Ter", "hgvsWellDefined": "ENSP00000361809.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269272" }, { "coordinates": [ { "allele": "T", "end": 3544, "referenceAllele": "G", "start": 3543 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "ENST00000372725.5:c.3193G>T" ], "proteinEffect": { "hgvs": "ENSP00000361810.1:p.Glu1065Ter", "hgvsWellDefined": "ENSP00000361810.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS269273" }, { "@id": "http://reg.genome.network/allele/PA2826395851", "coordinates": [ { "allele": "T", "end": 4221, "referenceAllele": "G", "start": 4220 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256468.1:c.3520G>T" ], "proteinEffect": { "hgvs": "NP_001243397.1:p.Glu1174Ter", "hgvsWellDefined": "NP_001243397.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019268" }, { "@id": "http://reg.genome.network/allele/PA2826396699", "coordinates": [ { "allele": "T", "end": 3894, "referenceAllele": "G", "start": 3893 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256469.1:c.3193G>T" ], "proteinEffect": { "hgvs": "NP_001243398.1:p.Glu1065Ter", "hgvsWellDefined": "NP_001243398.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS019269" }, { "@id": "http://reg.genome.network/allele/PA129313", "coordinates": [ { "allele": "T", "end": 4770, "referenceAllele": "G", "start": 4769 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_012330.3:c.4069G>T" ], "proteinEffect": { "hgvs": "NP_036462.2:p.Glu1357Ter", "hgvsWellDefined": "NP_036462.2:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032507" }, { "coordinates": [ { "allele": "T", "end": 4831, "referenceAllele": "G", "start": 4830 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_005269664.2:c.4069G>T" ], "proteinEffect": { "hgvs": "XP_005269721.1:p.Glu1357Ter", "hgvsWellDefined": "XP_005269721.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS066226" }, { "coordinates": [ { "allele": "A", "end": 576, "endIntronDirection": "-", "endIntronOffset": 2298, "referenceAllele": "C", "start": 576, "startIntronDirection": "-", "startIntronOffset": 2299 } ], "hgvs": [ "XR_946064.1:n.577-2299C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS139652" }, { "coordinates": [ { "allele": "A", "end": 4704, "endIntronDirection": "-", "endIntronOffset": 2298, "referenceAllele": "C", "start": 4704, "startIntronDirection": "-", "startIntronOffset": 2299 } ], "gene": "http://reg.genome.network/gene/GN023481", "geneNCBI_id": 338599, "geneSymbol": "DUSP29", "hgvs": [ "XM_011539747.2:c.*3622-2299C>A" ], "proteinEffect": { "hgvs": "XP_011538049.1:n.*3622-2299C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS553774" }, { "coordinates": [ { "allele": "T", "end": 4487, "referenceAllele": "G", "start": 4486 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016000.2:c.4069G>T" ], "proteinEffect": { "hgvs": "XP_016871489.1:p.Glu1357Ter", "hgvsWellDefined": "XP_016871489.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568552" }, { "coordinates": [ { "allele": "T", "end": 4782, "referenceAllele": "G", "start": 4781 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016002.1:c.4069G>T" ], "proteinEffect": { "hgvs": "XP_016871491.1:p.Glu1357Ter", "hgvsWellDefined": "XP_016871491.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568553" }, { "coordinates": [ { "allele": "T", "end": 4453, "referenceAllele": "G", "start": 4452 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016003.1:c.4069G>T" ], "proteinEffect": { "hgvs": "XP_016871492.1:p.Glu1357Ter", "hgvsWellDefined": "XP_016871492.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568554" }, { "coordinates": [ { "allele": "T", "end": 4325, "referenceAllele": "G", "start": 4324 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016004.2:c.3907G>T" ], "proteinEffect": { "hgvs": "XP_016871493.1:p.Glu1303Ter", "hgvsWellDefined": "XP_016871493.1:p.Glu1314_Arg2019delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568555" }, { "coordinates": [ { "allele": "T", "end": 3938, "referenceAllele": "G", "start": 3937 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016005.2:c.3520G>T" ], "proteinEffect": { "hgvs": "XP_016871494.1:p.Glu1174Ter", "hgvsWellDefined": "XP_016871494.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568556" }, { "coordinates": [ { "allele": "T", "end": 3611, "referenceAllele": "G", "start": 3610 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016006.2:c.3193G>T" ], "proteinEffect": { "hgvs": "XP_016871495.1:p.Glu1065Ter", "hgvsWellDefined": "XP_016871495.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568557" }, { "coordinates": [ { "allele": "T", "end": 3577, "referenceAllele": "G", "start": 3576 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016008.2:c.3193G>T" ], "proteinEffect": { "hgvs": "XP_016871497.1:p.Glu1065Ter", "hgvsWellDefined": "XP_016871497.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568558" }, { "coordinates": [ { "allele": "T", "end": 3732, "referenceAllele": "G", "start": 3731 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "XM_017016009.1:c.3031G>T" ], "proteinEffect": { "hgvs": "XP_016871498.1:p.Glu1011Ter", "hgvsWellDefined": "XP_016871498.1:p.Glu1022_Arg1727delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568559" }, { "@id": "http://reg.genome.network/allele/PA129313", "coordinates": [ { "allele": "T", "end": 4583, "referenceAllele": "G", "start": 4582 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_012330.4:c.4069G>T" ], "proteinEffect": { "hgvs": "NP_036462.2:p.Glu1357Ter", "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.4069G>T" }, "RefSeq": { "hgvs": "NM_012330.4:c.4069G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000287239.4:p.Glu1357Ter" }, "RefSeq": { "hgvs": "NP_036462.2:p.Glu1357Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2828381157", "coordinates": [ { "allele": "T", "end": 3545, "referenceAllele": "G", "start": 3544 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370132.1:c.3031G>T" ], "proteinEffect": { "hgvs": "NP_001357061.1:p.Glu1011Ter", "hgvsWellDefined": "NP_001357061.1:p.Glu1022_Arg1727delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692156" }, { "@id": "http://reg.genome.network/allele/PA916048106", "coordinates": [ { "allele": "T", "end": 2904, "referenceAllele": "G", "start": 2903 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370133.1:c.2380G>T" ], "proteinEffect": { "hgvs": "NP_001357062.1:p.Glu794Ter", "hgvsWellDefined": "NP_001357062.1:p.Glu805_Arg1510delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692157" }, { "@id": "http://reg.genome.network/allele/PA2828382528", "coordinates": [ { "allele": "T", "end": 3046, "referenceAllele": "G", "start": 3045 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370134.1:c.1984G>T" ], "proteinEffect": { "hgvs": "NP_001357063.1:p.Glu662Ter", "hgvsWellDefined": "NP_001357063.1:p.Glu673_Arg1378delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692158" }, { "@id": "http://reg.genome.network/allele/PA2828383139", "coordinates": [ { "allele": "T", "end": 2778, "referenceAllele": "G", "start": 2777 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370135.1:c.1726G>T" ], "proteinEffect": { "hgvs": "NP_001357064.1:p.Glu576Ter", "hgvsWellDefined": "NP_001357064.1:p.Glu587_Arg1292delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692159" }, { "@id": "http://reg.genome.network/allele/PA2828384097", "coordinates": [ { "allele": "T", "end": 4593, "referenceAllele": "G", "start": 4592 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370136.1:c.4069G>T" ], "proteinEffect": { "hgvs": "NP_001357065.1:p.Glu1357Ter", "hgvsWellDefined": "NP_001357065.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692160" }, { "@id": "http://reg.genome.network/allele/PA2828384957", "coordinates": [ { "allele": "T", "end": 4614, "referenceAllele": "G", "start": 4613 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370137.1:c.4069G>T" ], "proteinEffect": { "hgvs": "NP_001357066.1:p.Glu1357Ter", "hgvsWellDefined": "NP_001357066.1:p.Glu1368_Arg2073delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692161" }, { "@id": "http://reg.genome.network/allele/PA2828385875", "coordinates": [ { "allele": "T", "end": 4044, "referenceAllele": "G", "start": 4043 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370138.1:c.3520G>T" ], "proteinEffect": { "hgvs": "NP_001357067.1:p.Glu1174Ter", "hgvsWellDefined": "NP_001357067.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692162" }, { "@id": "http://reg.genome.network/allele/PA2828386723", "coordinates": [ { "allele": "T", "end": 3654, "referenceAllele": "G", "start": 3653 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370139.1:c.3193G>T" ], "proteinEffect": { "hgvs": "NP_001357068.1:p.Glu1065Ter", "hgvsWellDefined": "NP_001357068.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692163" }, { "@id": "http://reg.genome.network/allele/PA2828387570", "coordinates": [ { "allele": "T", "end": 3717, "referenceAllele": "G", "start": 3716 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370140.1:c.3193G>T" ], "proteinEffect": { "hgvs": "NP_001357069.1:p.Glu1065Ter", "hgvsWellDefined": "NP_001357069.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692164" }, { "@id": "http://reg.genome.network/allele/PA2828388418", "coordinates": [ { "allele": "T", "end": 3647, "referenceAllele": "G", "start": 3646 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370141.1:c.3193G>T" ], "proteinEffect": { "hgvs": "NP_001357070.1:p.Glu1065Ter", "hgvsWellDefined": "NP_001357070.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692165" }, { "@id": "http://reg.genome.network/allele/PA2828389231", "coordinates": [ { "allele": "T", "end": 3637, "referenceAllele": "G", "start": 3636 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370142.1:c.3193G>T" ], "proteinEffect": { "hgvs": "NP_001357071.1:p.Glu1065Ter", "hgvsWellDefined": "NP_001357071.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692166" }, { "@id": "http://reg.genome.network/allele/PA2828390057", "coordinates": [ { "allele": "T", "end": 3458, "referenceAllele": "G", "start": 3457 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370143.1:c.3004G>T" ], "proteinEffect": { "hgvs": "NP_001357072.1:p.Glu1002Ter", "hgvsWellDefined": "NP_001357072.1:p.Glu1013_Arg1718delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692167" }, { "@id": "http://reg.genome.network/allele/PA2828390876", "coordinates": [ { "allele": "T", "end": 3518, "referenceAllele": "G", "start": 3517 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001370144.1:c.3004G>T" ], "proteinEffect": { "hgvs": "NP_001357073.1:p.Glu1002Ter", "hgvsWellDefined": "NP_001357073.1:p.Glu1013_Arg1718delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692168" }, { "@id": "http://reg.genome.network/allele/PA2826395851", "coordinates": [ { "allele": "T", "end": 4034, "referenceAllele": "G", "start": 4033 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256468.2:c.3520G>T" ], "proteinEffect": { "hgvs": "NP_001243397.1:p.Glu1174Ter", "hgvsWellDefined": "NP_001243397.1:p.Glu1185_Arg1890delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714770" }, { "@id": "http://reg.genome.network/allele/PA2826396699", "coordinates": [ { "allele": "T", "end": 3707, "referenceAllele": "G", "start": 3706 } ], "gene": "http://reg.genome.network/gene/GN017582", "geneNCBI_id": 23522, "geneSymbol": "KAT6B", "hgvs": [ "NM_001256469.2:c.3193G>T" ], "proteinEffect": { "hgvs": "NP_001243398.1:p.Glu1065Ter", "hgvsWellDefined": "NP_001243398.1:p.Glu1076_Arg1781delinsGlyGluGluGluGluGlyGlyGlyAsnValGluLysAspProAspGlyAlaLysSerGlnGluLysGluGluProGluIleSerThrGluLysGluAspSerAlaArgLeuAspAspHisGluGluGluGluGluGluAspGluGluProSerHisAsnGluAspHisAspAlaAspAspGluAspAspSerHisMetGluSerAlaGluValGluLysGluGluLeuProArgGluSerPheLysGluValLeuGluAsnGlnGluThrPheLeuAspLeuAsnValGlnProGlyHisSerAsnProGluValLeuMetAspCysGlyValAspLeuThrAlaSerCysAsnSerGluProLysGluLeuAlaGlyAspProGluAlaValProGluSerAspGluGluProProProGlyGluGlnAlaGlnLysGlnAspGlnLysAsnSerLysGluValAspThrGluPheLysGluGlyAsnProAlaThrMetGluIleAspSerGluThrValGlnAlaValGlnSerLeuThrGlnGluSerSerGluGlnAspAspThrPheGlnAspCysAlaGluThrGlnGluAlaCysArgSerLeuGlnAsnTyrThrArgAlaAspGlnSerProGlnIleAlaThrThrLeuAspAspCysGlnGlnSerAspHisSerSerProValSerSerValHisSerHisProGlyGlnSerValArgSerValAsnSerProSerValProAlaLeuGluAsnSerTyrAlaGlnIleSerProAspGlnSerAlaIleSerValProSerLeuGlnAsnMetGluThrSerProMetMetAspValProSerValSerAspHisSerGlnGlnValValAspSerGlyPheSerAspLeuGlySerIleGluSerThrThrGluAsnTyrGluAsnProSerSerTyrAspSerThrMetGlyGlySerIleCysGlyAsnGlySerSerGlnAsnSerCysSerTyrSerAsnLeuThrSerSerSerLeuThrGlnSerSerCysAlaValThrGlnGlnMetSerAsnIleSerGlySerCysSerMetLeuGlnGlnThrSerIleSerSerProProThrCysSerValLysSerProGlnGlyCysValValGluArgProProSerSerSerGlnGlnLeuAlaGlnCysSerMetAlaAlaAsnPheThrProProMetGlnLeuAlaGluIleProGluThrSerAsnAlaAsnIleGlyLeuTyrGluArgMetGlyGlnSerAspPheGlyAlaGlyHisTyrProGlnProSerAlaThrPheSerLeuAlaLysLeuGlnGlnLeuThrAsnThrLeuIleAspHisSerLeuProTyrSerHisSerAlaAlaValThrSerTyrAlaAsnSerAlaSerLeuSerThrProLeuSerAsnThrGlyLeuValGlnLeuSerGlnSerProHisSerValProGlyGlyProGlnAlaGlnAlaThrMetThrProProProAsnLeuThrProProProMetAsnLeuProProProLeuLeuGlnArgAsnMetAlaAlaSerAsnIleGlyIleSerHisSerGlnArgLeuGlnThrGlnIleAlaSerLysGlyHisIleSerMetArgThrLysSerAlaSerLeuSerProAlaAlaAlaThrHisGlnSerGlnIleTyrGlyArgSerGlnThrValAlaMetGlnGlyProAlaArgThrLeuThrMetGlnArgGlyMetAsnMetSerValAsnLeuMetProAlaProAlaTyrAsnValAsnSerValAsnMetAsnMetAsnThrLeuAsnAlaMetAsnGlyTyrSerMetSerGlnProMetMetAsnSerGlyTyrHisSerAsnHisGlyTyrMetAsnGlnThrProGlnTyrProMetGlnMetGlnMetGlyMetMetGlyThrGlnProTyrAlaGlnGlnProMetGlnThrProProHisGlyAsnMetMetTyrThrAlaProGlyHisHisGlyTyrMetAsnThrGlyMetSerLysGlnSerLeuAsnGlySerTyrMetArgArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714771" } ], "type": "nucleotide" }