{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412794608", "communityStandardTitle": [ "NM_001291415.2(KDM6A):c.2491C>T (p.Gln831Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324405[alleleid]", "alleleId": 1324405, "preferredName": "NM_001291415.2(KDM6A):c.2491C>T (p.Gln831Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1333634", "RCV": [ "RCV001808850" ], "variationId": 1333634 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.44929235C>T?assembly=hg19", "id": "chrX:g.44929235C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.45069990C>T?assembly=hg38", "id": "chrX:g.45069990C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2148047495", "rs": 2148047495 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 45069990, "referenceAllele": "C", "start": 45069989 } ], "hgvs": [ "NC_000023.11:g.45069990C>T", "CM000685.2:g.45069990C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44929235, "referenceAllele": "C", "start": 44929234 } ], "hgvs": [ "NC_000023.10:g.44929235C>T", "CM000685.1:g.44929235C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44814179, "referenceAllele": "C", "start": 44814178 } ], "hgvs": [ "NC_000023.9:g.44814179C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 201813, "referenceAllele": "C", "start": 201812 } ], "hgvs": [ "NG_016260.1:g.201813C>T", "LRG_616:g.201813C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2004, "referenceAllele": "C", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.5:c.2004C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.2004C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826552" }, { "coordinates": [ { "allele": "T", "end": 2235, "referenceAllele": "C", "start": 2234 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682908.1:c.2235C>T" ], "proteinEffect": { "hgvs": "ENSP00000508158.1:n.2235C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827896" }, { "coordinates": [ { "allele": "T", "end": 2254, "referenceAllele": "C", "start": 2253 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683021.1:c.2254C>T" ], "proteinEffect": { "hgvs": "ENSP00000507416.1:p.Gln752Ter", "hgvsWellDefined": "ENSP00000507416.1:p.Gln752_Ser1374delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828008" }, { "coordinates": [ { "allele": "T", "end": 2333, "referenceAllele": "C", "start": 2332 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683425.1:c.*1818C>T" ], "proteinEffect": { "hgvs": "ENSP00000507291.1:n.*1818C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828402" }, { "coordinates": [ { "allele": "T", "end": 2356, "referenceAllele": "C", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000684352.1:c.2356C>T" ], "proteinEffect": { "hgvs": "ENSP00000508379.1:p.Gln786Ter", "hgvsWellDefined": "ENSP00000508379.1:p.Gln786_Pro842delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnProPheGlnGlnGlnHisLeuLeuGlnAsnProLeuSerArgGlnProGlnThrValLeuProAlaLeuThrAlaLeuThrValGlyTyrThrGlnLeuMetGluLysGlyTrpLysAsnLeuArgAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829307" }, { "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.9:c.2335C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Gln779Ter", "hgvsWellDefined": "ENSP00000367203.4:p.Gln779_Ser1401delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752006" }, { "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.9:c.2356C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.6:p.Gln786Ter", "hgvsWellDefined": "ENSP00000372355.6:p.Gln786_Ser1408delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752693" }, { "coordinates": [ { "allele": "T", "end": 2564, "referenceAllele": "C", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.6:c.2200C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.3:p.Gln734Ter", "hgvsWellDefined": "ENSP00000437405.3:p.Gln734_Ser1356delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759500" }, { "coordinates": [ { "allele": "T", "end": 2462, "referenceAllele": "C", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.6:c.2098C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.3:p.Gln700Ter", "hgvsWellDefined": "ENSP00000443078.3:p.Gln700_Ser1322delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759724" }, { "coordinates": [ { "allele": "T", "end": 2855, "referenceAllele": "C", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.5:c.2491C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.2:p.Gln831Ter", "hgvsWellDefined": "ENSP00000483595.2:p.Gln831_Ser1453delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2491C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2491C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Gln831Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Gln831Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2443, "referenceAllele": "C", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674541.1:c.*1623C>T" ], "proteinEffect": { "hgvs": "ENSP00000501919.1:n.*1623C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774493" }, { "coordinates": [ { "allele": "T", "end": 2618, "referenceAllele": "C", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674564.1:c.2254C>T" ], "proteinEffect": { "hgvs": "ENSP00000502150.1:p.Gln752Ter", "hgvsWellDefined": "ENSP00000502150.1:p.Gln752_Leu1293delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValLeuSerSerLysAsnSerGluAlaMetSerAspIleGluGlySerSerHisCysCysArgLysArgAspTyrMetAlaTrpAlaAspLysArgArgThrSerSerLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774514" }, { "coordinates": [ { "allele": "T", "end": 2777, "referenceAllele": "C", "start": 2776 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674586.1:c.2413C>T" ], "proteinEffect": { "hgvs": "ENSP00000502660.1:p.Gln805Ter", "hgvsWellDefined": "ENSP00000502660.1:p.Gln805_Ser1427delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774531" }, { "coordinates": [ { "allele": "T", "end": 2599, "referenceAllele": "C", "start": 2598 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674659.1:c.*1779C>T" ], "proteinEffect": { "hgvs": "ENSP00000502255.1:n.*1779C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774595" }, { "coordinates": [ { "allele": "T", "end": 3393, "referenceAllele": "C", "start": 3392 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674739.1:n.3393C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774661" }, { "coordinates": [ { "allele": "T", "end": 2561, "referenceAllele": "C", "start": 2560 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674867.1:c.2197C>T" ], "proteinEffect": { "hgvs": "ENSP00000502060.1:p.Gln733Ter", "hgvsWellDefined": "ENSP00000502060.1:p.Gln733_Ser1355delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774764" }, { "coordinates": [ { "allele": "T", "end": 1942, "referenceAllele": "C", "start": 1941 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675157.1:n.1942C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775022" }, { "coordinates": [ { "allele": "T", "end": 2375, "referenceAllele": "C", "start": 2374 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675182.1:n.2375C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775043" }, { "coordinates": [ { "allele": "T", "end": 2511, "referenceAllele": "C", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675440.1:n.2511C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775263" }, { "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675514.1:c.2335C>T" ], "proteinEffect": { "hgvs": "ENSP00000502759.1:p.Gln779Ter", "hgvsWellDefined": "ENSP00000502759.1:p.Gln779_Lys1129delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysAsnArgLysSerSerLysProCysTrpSerTyrHisIleGlyHisGluHisSerSerThrIleHisGluSerSerArgGluGlnAsnThrArgSerSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775323" }, { "coordinates": [ { "allele": "T", "end": 4457, "referenceAllele": "C", "start": 4456 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675525.1:n.4457C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775332" }, { "coordinates": [ { "allele": "T", "end": 2702, "referenceAllele": "C", "start": 2701 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675546.1:n.2702C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775348" }, { "coordinates": [ { "allele": "T", "end": 2597, "referenceAllele": "C", "start": 2596 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675577.1:c.2233C>T" ], "proteinEffect": { "hgvs": "ENSP00000501855.1:p.Gln745Ter", "hgvsWellDefined": "ENSP00000501855.1:p.Gln745_Ser1367delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775377" }, { "coordinates": [ { "allele": "T", "end": 2511, "referenceAllele": "C", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675816.1:n.2511C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775586" }, { "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676062.1:c.2356C>T" ], "proteinEffect": { "hgvs": "ENSP00000502311.1:p.Gln786Ter", "hgvsWellDefined": "ENSP00000502311.1:p.Gln786_Glu1336delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775799" }, { "coordinates": [ { "allele": "T", "end": 2341, "referenceAllele": "C", "start": 2340 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676085.1:c.*1521C>T" ], "proteinEffect": { "hgvs": "ENSP00000501752.1:n.*1521C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775819" }, { "coordinates": [ { "allele": "T", "end": 3133, "referenceAllele": "C", "start": 3132 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676133.1:c.*2388C>T" ], "proteinEffect": { "hgvs": "ENSP00000502586.1:n.*2388C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775859" }, { "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676343.1:c.2356C>T" ], "proteinEffect": { "hgvs": "ENSP00000501761.1:p.Gln786Ter", "hgvsWellDefined": "ENSP00000501761.1:p.Gln786_Phe1256delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrGlyIleValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776036" }, { "coordinates": [ { "allele": "T", "end": 2778, "referenceAllele": "C", "start": 2777 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676389.1:n.2778C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776078" }, { "coordinates": [ { "allele": "T", "end": 2376, "referenceAllele": "C", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.8:c.2335C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Gln779Ter", "hgvsWellDefined": "ENSP00000367203.4:p.Gln779_Ser1401delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271831" }, { "coordinates": [ { "allele": "T", "end": 2731, "referenceAllele": "C", "start": 2730 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.8:c.2284C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.5:p.Gln762Ter", "hgvsWellDefined": "ENSP00000372355.5:p.Gln762_Ser1384delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273898" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000414389.5:c.1127C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS283510" }, { "coordinates": [ { "allele": "T", "end": 1262, "referenceAllele": "C", "start": 1261 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000433797.5:c.1262C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS292713" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.5:c.2128C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.2:p.Gln710Ter", "hgvsWellDefined": "ENSP00000437405.2:p.Gln710_Ser1332delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360425" }, { "coordinates": [ { "allele": "T", "end": 2629, "referenceAllele": "C", "start": 2628 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.5:c.2182C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.2:p.Gln728Ter", "hgvsWellDefined": "ENSP00000443078.2:p.Gln728_Leu1269delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValLeuSerSerLysAsnSerGluAlaMetSerAspIleGluGlySerSerHisCysCysArgLysArgAspTyrMetAlaTrpAlaAspLysArgArgThrSerSerLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363890" }, { "coordinates": [ { "allele": "T", "end": 2866, "referenceAllele": "C", "start": 2865 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.4:c.2419C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.1:p.Gln807Ter", "hgvsWellDefined": "ENSP00000483595.1:p.Gln807_Ser1429delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401028" }, { "coordinates": [ { "allele": "T", "end": 2004, "referenceAllele": "C", "start": 2003 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.4:c.2004C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.2004C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405143" }, { "@id": "http://reg.genome.network/allele/PA2573069609", "coordinates": [ { "allele": "T", "end": 2868, "referenceAllele": "C", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.1:c.2491C>T", "LRG_616t1:c.2491C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Gln831Ter", "hgvsWellDefined": "NP_001278344.1:p.Gln831_Ser1453delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024209" }, { "@id": "http://reg.genome.network/allele/PA2826796976", "coordinates": [ { "allele": "T", "end": 2733, "referenceAllele": "C", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.1:c.2356C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Gln786Ter", "hgvsWellDefined": "NP_001278345.1:p.Gln786_Ser1408delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024210" }, { "@id": "http://reg.genome.network/allele/PA2826797539", "coordinates": [ { "allele": "T", "end": 2577, "referenceAllele": "C", "start": 2576 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.1:c.2200C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Gln734Ter", "hgvsWellDefined": "NP_001278346.1:p.Gln734_Ser1356delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024211" }, { "@id": "http://reg.genome.network/allele/PA2826798082", "coordinates": [ { "allele": "T", "end": 2475, "referenceAllele": "C", "start": 2474 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.1:c.2098C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Gln700Ter", "hgvsWellDefined": "NP_001278347.1:p.Gln700_Ser1322delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024212" }, { "@id": "http://reg.genome.network/allele/PA2826798518", "coordinates": [ { "allele": "T", "end": 2456, "referenceAllele": "C", "start": 2455 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.1:c.1447C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Gln483Ter", "hgvsWellDefined": "NP_001278350.1:p.Gln483_Ser1105delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024215" }, { "@id": "http://reg.genome.network/allele/PA2829966996", "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "C", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.3:c.2335C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Gln779Ter", "hgvsWellDefined": "NP_066963.2:p.Gln779_Ser1401delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036858" }, { "coordinates": [ { "allele": "T", "end": 2631, "referenceAllele": "C", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.1:n.2631C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055150" }, { "coordinates": [ { "allele": "T", "end": 2766, "referenceAllele": "C", "start": 2765 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.3:c.2389C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Gln797Ter", "hgvsWellDefined": "XP_005272713.1:p.Gln797_Ser1419delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067323" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "C", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.3:c.2233C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Gln745Ter", "hgvsWellDefined": "XP_005272716.1:p.Gln745_Ser1367delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067324" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543957.1:c.2548C>T" ], "proteinEffect": { "hgvs": "XP_011542259.1:p.Gln850Ter", "hgvsWellDefined": "XP_011542259.1:p.Gln850_Ser1508delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110870" }, { "coordinates": [ { "allele": "T", "end": 2868, "referenceAllele": "C", "start": 2867 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.1:c.2491C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Gln831Ter", "hgvsWellDefined": "XP_011542260.1:p.Gln831_Ser1489delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "T", "end": 2823, "referenceAllele": "C", "start": 2822 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.2446C>T" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Gln816Ter", "hgvsWellDefined": "XP_011542261.1:p.Gln816_Ser1474delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.2548C>T" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Gln850Ter", "hgvsWellDefined": "XP_011542262.1:p.Gln850_Ser1472delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.2413C>T" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Gln805Ter", "hgvsWellDefined": "XP_011542263.1:p.Gln805_Ser1463delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "T", "end": 2769, "referenceAllele": "C", "start": 2768 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.2392C>T" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Gln798Ter", "hgvsWellDefined": "XP_011542264.1:p.Gln798_Ser1456delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "T", "end": 2733, "referenceAllele": "C", "start": 2732 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.2356C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Gln786Ter", "hgvsWellDefined": "XP_011542265.1:p.Gln786_Ser1444delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "C", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Gln779Ter", "hgvsWellDefined": "XP_011542266.1:p.Gln779_Ser1437delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { "coordinates": [ { "allele": "T", "end": 2688, "referenceAllele": "C", "start": 2687 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543965.1:c.2311C>T" ], "proteinEffect": { "hgvs": "XP_011542267.1:p.Gln771Ter", "hgvsWellDefined": "XP_011542267.1:p.Gln771_Ser1429delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "T", "end": 2667, "referenceAllele": "C", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.2290C>T" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Gln764Ter", "hgvsWellDefined": "XP_011542268.1:p.Gln764_Ser1422delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "T", "end": 2769, "referenceAllele": "C", "start": 2768 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.2392C>T" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Gln798Ter", "hgvsWellDefined": "XP_011542269.1:p.Gln798_Ser1420delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "T", "end": 2634, "referenceAllele": "C", "start": 2633 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.2257C>T" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Gln753Ter", "hgvsWellDefined": "XP_011542270.1:p.Gln753_Ser1411delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "T", "end": 2631, "referenceAllele": "C", "start": 2630 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.2254C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Gln752Ter", "hgvsWellDefined": "XP_011542271.1:p.Gln752_Ser1410delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "T", "end": 2610, "referenceAllele": "C", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.2233C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Gln745Ter", "hgvsWellDefined": "XP_011542272.1:p.Gln745_Ser1403delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "T", "end": 2688, "referenceAllele": "C", "start": 2687 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.2311C>T" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Gln771Ter", "hgvsWellDefined": "XP_011542273.1:p.Gln771_Ser1393delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "T", "end": 2577, "referenceAllele": "C", "start": 2576 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.1:c.2200C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Gln734Ter", "hgvsWellDefined": "XP_011542274.1:p.Gln734_Ser1392delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110885" }, { "coordinates": [ { "allele": "T", "end": 2634, "referenceAllele": "C", "start": 2633 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543973.1:c.2257C>T" ], "proteinEffect": { "hgvs": "XP_011542275.1:p.Gln753Ter", "hgvsWellDefined": "XP_011542275.1:p.Gln753_Ser1375delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110886" }, { "coordinates": [ { "allele": "T", "end": 2712, "referenceAllele": "C", "start": 2711 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.1:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Gln779Ter", "hgvsWellDefined": "XP_011542276.1:p.Gln779_Lys1293delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110887" }, { "coordinates": [ { "allele": "T", "end": 2038, "referenceAllele": "C", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.1:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Gln580Ter", "hgvsWellDefined": "XP_011542277.1:p.Gln580_Ser1238delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110888" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543976.1:c.2548C>T" ], "proteinEffect": { "hgvs": "XP_011542278.1:p.Gln850Ter", "hgvsWellDefined": "XP_011542278.1:p.Gln850_Ile1218delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGluIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110889" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_949018.1:n.2925C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS142596" }, { "coordinates": [ { "allele": "T", "end": 2759, "referenceAllele": "C", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.5:c.2389C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Gln797Ter", "hgvsWellDefined": "XP_005272713.1:p.Gln797_Ser1419delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537336" }, { "coordinates": [ { "allele": "T", "end": 2603, "referenceAllele": "C", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.5:c.2233C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Gln745Ter", "hgvsWellDefined": "XP_005272716.1:p.Gln745_Ser1367delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537337" }, { "coordinates": [ { "allele": "T", "end": 2861, "referenceAllele": "C", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.3:c.2491C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Gln831Ter", "hgvsWellDefined": "XP_011542260.1:p.Gln831_Ser1489delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555444" }, { "coordinates": [ { "allele": "T", "end": 2726, "referenceAllele": "C", "start": 2725 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.3:c.2356C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Gln786Ter", "hgvsWellDefined": "XP_011542265.1:p.Gln786_Ser1444delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555445" }, { "coordinates": [ { "allele": "T", "end": 2705, "referenceAllele": "C", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Gln779Ter", "hgvsWellDefined": "XP_011542266.1:p.Gln779_Ser1437delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { "coordinates": [ { "allele": "T", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.3:c.2254C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Gln752Ter", "hgvsWellDefined": "XP_011542271.1:p.Gln752_Ser1410delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555447" }, { "coordinates": [ { "allele": "T", "end": 2603, "referenceAllele": "C", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.3:c.2233C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Gln745Ter", "hgvsWellDefined": "XP_011542272.1:p.Gln745_Ser1403delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555448" }, { "coordinates": [ { "allele": "T", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.2200C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Gln734Ter", "hgvsWellDefined": "XP_011542274.1:p.Gln734_Ser1392delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { "coordinates": [ { "allele": "T", "end": 2705, "referenceAllele": "C", "start": 2704 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.2:c.2335C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Gln779Ter", "hgvsWellDefined": "XP_011542276.1:p.Gln779_Lys1293delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555450" }, { "coordinates": [ { "allele": "T", "end": 2038, "referenceAllele": "C", "start": 2037 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.2:c.1738C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Gln580Ter", "hgvsWellDefined": "XP_011542277.1:p.Gln580_Ser1238delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555451" }, { "coordinates": [ { "allele": "T", "end": 2624, "referenceAllele": "C", "start": 2623 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029783.2:c.2254C>T" ], "proteinEffect": { "hgvs": "XP_016885272.1:p.Gln752Ter", "hgvsWellDefined": "XP_016885272.1:p.Gln752_Ser1374delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579277" }, { "coordinates": [ { "allele": "T", "end": 2178, "referenceAllele": "C", "start": 2177 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029784.1:c.1603C>T" ], "proteinEffect": { "hgvs": "XP_016885273.1:p.Gln535Ter", "hgvsWellDefined": "XP_016885273.1:p.Gln535_Ser1193delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579278" }, { "coordinates": [ { "allele": "T", "end": 2151, "referenceAllele": "C", "start": 2150 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.1345C>T" ], "proteinEffect": { "hgvs": "XP_016885274.1:p.Gln449Ter", "hgvsWellDefined": "XP_016885274.1:p.Gln449_Ser1071delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "T", "end": 2759, "referenceAllele": "C", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.2389C>T" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Gln797Ter", "hgvsWellDefined": "XP_024308206.1:p.Gln797_Ser1455delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "T", "end": 2499, "referenceAllele": "C", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.1966C>T" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Gln656Ter", "hgvsWellDefined": "XP_024308207.1:p.Gln656_Ser1314delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "T", "end": 2861, "referenceAllele": "C", "start": 2860 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.2861C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "@id": "http://reg.genome.network/allele/PA2573069609", "coordinates": [ { "allele": "T", "end": 2855, "referenceAllele": "C", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.2491C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Gln831Ter", "hgvsWellDefined": "NP_001278344.1:p.Gln831_Ser1453delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2491C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2491C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Gln831Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Gln831Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826796976", "coordinates": [ { "allele": "T", "end": 2720, "referenceAllele": "C", "start": 2719 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.2356C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Gln786Ter", "hgvsWellDefined": "NP_001278345.1:p.Gln786_Ser1408delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "@id": "http://reg.genome.network/allele/PA2826797539", "coordinates": [ { "allele": "T", "end": 2564, "referenceAllele": "C", "start": 2563 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.2200C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Gln734Ter", "hgvsWellDefined": "NP_001278346.1:p.Gln734_Ser1356delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "@id": "http://reg.genome.network/allele/PA2826798082", "coordinates": [ { "allele": "T", "end": 2462, "referenceAllele": "C", "start": 2461 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.2098C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Gln700Ter", "hgvsWellDefined": "NP_001278347.1:p.Gln700_Ser1322delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "@id": "http://reg.genome.network/allele/PA2826798518", "coordinates": [ { "allele": "T", "end": 2443, "referenceAllele": "C", "start": 2442 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.1447C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Gln483Ter", "hgvsWellDefined": "NP_001278350.1:p.Gln483_Ser1105delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "@id": "http://reg.genome.network/allele/PA2829966996", "coordinates": [ { "allele": "T", "end": 2699, "referenceAllele": "C", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.2335C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Gln779Ter", "hgvsWellDefined": "NP_066963.2:p.Gln779_Ser1401delinsLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "T", "end": 2618, "referenceAllele": "C", "start": 2617 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.2618C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }