{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412793108", "communityStandardTitle": [ "NM_001291415.2(KDM6A):c.2284C>T (p.Gln762Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4385382", "active": true, "id": "COSM4385382" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4385383", "active": true, "id": "COSM4385383" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4385384", "active": true, "id": "COSM4385384" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1360162[alleleid]", "alleleId": 1360162, "preferredName": "NM_001291415.2(KDM6A):c.2284C>T (p.Gln762Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1360596", "RCV": [ "RCV001864991" ], "variationId": 1360596 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.44929028C>T?assembly=hg19", "id": "chrX:g.44929028C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.45069783C>T?assembly=hg38", "id": "chrX:g.45069783C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1358181248", "rs": 1358181248 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 45069783, "referenceAllele": "C", "start": 45069782 } ], "hgvs": [ "NC_000023.11:g.45069783C>T", "CM000685.2:g.45069783C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44929028, "referenceAllele": "C", "start": 44929027 } ], "hgvs": [ "NC_000023.10:g.44929028C>T", "CM000685.1:g.44929028C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44813972, "referenceAllele": "C", "start": 44813971 } ], "hgvs": [ "NC_000023.9:g.44813972C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 201606, "referenceAllele": "C", "start": 201605 } ], "hgvs": [ "NG_016260.1:g.201606C>T", "LRG_616:g.201606C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1797, "referenceAllele": "C", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.5:c.1797C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1797C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826552" }, { "coordinates": [ { "allele": "T", "end": 2028, "referenceAllele": "C", "start": 2027 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682908.1:c.2028C>T" ], "proteinEffect": { "hgvs": "ENSP00000508158.1:n.2028C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827896" }, { "coordinates": [ { "allele": "T", "end": 2047, "referenceAllele": "C", "start": 2046 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683021.1:c.2047C>T" ], "proteinEffect": { "hgvs": "ENSP00000507416.1:p.Gln683Ter", "hgvsWellDefined": "ENSP00000507416.1:p.Gln683_Ser1374delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828008" }, { "coordinates": [ { "allele": "T", "end": 2126, "referenceAllele": "C", "start": 2125 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683425.1:c.*1611C>T" ], "proteinEffect": { "hgvs": "ENSP00000507291.1:n.*1611C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828402" }, { "coordinates": [ { "allele": "T", "end": 2149, "referenceAllele": "C", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000684352.1:c.2149C>T" ], "proteinEffect": { "hgvs": "ENSP00000508379.1:p.Gln717Ter", "hgvsWellDefined": "ENSP00000508379.1:p.Gln717_Pro842delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnProPheGlnGlnGlnHisLeuLeuGlnAsnProLeuSerArgGlnProGlnThrValLeuProAlaLeuThrAlaLeuThrValGlyTyrThrGlnLeuMetGluLysGlyTrpLysAsnLeuArgAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829307" }, { "coordinates": [ { "allele": "T", "end": 2492, "referenceAllele": "C", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.9:c.2128C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Gln710Ter", "hgvsWellDefined": "ENSP00000367203.4:p.Gln710_Ser1401delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752006" }, { "coordinates": [ { "allele": "T", "end": 2513, "referenceAllele": "C", "start": 2512 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.9:c.2149C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.6:p.Gln717Ter", "hgvsWellDefined": "ENSP00000372355.6:p.Gln717_Ser1408delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752693" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.6:c.1993C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.3:p.Gln665Ter", "hgvsWellDefined": "ENSP00000437405.3:p.Gln665_Ser1356delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759500" }, { "coordinates": [ { "allele": "T", "end": 2255, "referenceAllele": "C", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.6:c.1891C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.3:p.Gln631Ter", "hgvsWellDefined": "ENSP00000443078.3:p.Gln631_Ser1322delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759724" }, { "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.5:c.2284C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.2:p.Gln762Ter", "hgvsWellDefined": "ENSP00000483595.2:p.Gln762_Ser1453delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2284C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2284C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Gln762Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Gln762Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2236, "referenceAllele": "C", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674541.1:c.*1416C>T" ], "proteinEffect": { "hgvs": "ENSP00000501919.1:n.*1416C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774493" }, { "coordinates": [ { "allele": "T", "end": 2411, "referenceAllele": "C", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674564.1:c.2047C>T" ], "proteinEffect": { "hgvs": "ENSP00000502150.1:p.Gln683Ter", "hgvsWellDefined": "ENSP00000502150.1:p.Gln683_Leu1293delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValLeuSerSerLysAsnSerGluAlaMetSerAspIleGluGlySerSerHisCysCysArgLysArgAspTyrMetAlaTrpAlaAspLysArgArgThrSerSerLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774514" }, { "coordinates": [ { "allele": "T", "end": 2570, "referenceAllele": "C", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674586.1:c.2206C>T" ], "proteinEffect": { "hgvs": "ENSP00000502660.1:p.Gln736Ter", "hgvsWellDefined": "ENSP00000502660.1:p.Gln736_Ser1427delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774531" }, { "coordinates": [ { "allele": "T", "end": 2392, "referenceAllele": "C", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674659.1:c.*1572C>T" ], "proteinEffect": { "hgvs": "ENSP00000502255.1:n.*1572C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774595" }, { "coordinates": [ { "allele": "T", "end": 3186, "referenceAllele": "C", "start": 3185 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674739.1:n.3186C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774661" }, { "coordinates": [ { "allele": "T", "end": 2354, "referenceAllele": "C", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674867.1:c.1990C>T" ], "proteinEffect": { "hgvs": "ENSP00000502060.1:p.Gln664Ter", "hgvsWellDefined": "ENSP00000502060.1:p.Gln664_Ser1355delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774764" }, { "coordinates": [ { "allele": "T", "end": 1735, "referenceAllele": "C", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675157.1:n.1735C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775022" }, { "coordinates": [ { "allele": "T", "end": 2168, "referenceAllele": "C", "start": 2167 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675182.1:n.2168C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775043" }, { "coordinates": [ { "allele": "T", "end": 2304, "referenceAllele": "C", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675440.1:n.2304C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775263" }, { "coordinates": [ { "allele": "T", "end": 2492, "referenceAllele": "C", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675514.1:c.2128C>T" ], "proteinEffect": { "hgvs": "ENSP00000502759.1:p.Gln710Ter", "hgvsWellDefined": "ENSP00000502759.1:p.Gln710_Lys1129delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysAsnArgLysSerSerLysProCysTrpSerTyrHisIleGlyHisGluHisSerSerThrIleHisGluSerSerArgGluGlnAsnThrArgSerSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775323" }, { "coordinates": [ { "allele": "T", "end": 4250, "referenceAllele": "C", "start": 4249 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675525.1:n.4250C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775332" }, { "coordinates": [ { "allele": "T", "end": 2495, "referenceAllele": "C", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675546.1:n.2495C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775348" }, { "coordinates": [ { "allele": "T", "end": 2390, "referenceAllele": "C", "start": 2389 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675577.1:c.2026C>T" ], "proteinEffect": { "hgvs": "ENSP00000501855.1:p.Gln676Ter", "hgvsWellDefined": "ENSP00000501855.1:p.Gln676_Ser1367delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775377" }, { "coordinates": [ { "allele": "T", "end": 2304, "referenceAllele": "C", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675816.1:n.2304C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775586" }, { "coordinates": [ { "allele": "T", "end": 2513, "referenceAllele": "C", "start": 2512 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676062.1:c.2149C>T" ], "proteinEffect": { "hgvs": "ENSP00000502311.1:p.Gln717Ter", "hgvsWellDefined": "ENSP00000502311.1:p.Gln717_Glu1336delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775799" }, { "coordinates": [ { "allele": "T", "end": 2134, "referenceAllele": "C", "start": 2133 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676085.1:c.*1314C>T" ], "proteinEffect": { "hgvs": "ENSP00000501752.1:n.*1314C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775819" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676133.1:c.*2181C>T" ], "proteinEffect": { "hgvs": "ENSP00000502586.1:n.*2181C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775859" }, { "coordinates": [ { "allele": "T", "end": 2513, "referenceAllele": "C", "start": 2512 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676343.1:c.2149C>T" ], "proteinEffect": { "hgvs": "ENSP00000501761.1:p.Gln717Ter", "hgvsWellDefined": "ENSP00000501761.1:p.Gln717_Phe1256delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrGlyIleValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776036" }, { "coordinates": [ { "allele": "T", "end": 2571, "referenceAllele": "C", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676389.1:n.2571C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776078" }, { "coordinates": [ { "allele": "T", "end": 2169, "referenceAllele": "C", "start": 2168 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.8:c.2128C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Gln710Ter", "hgvsWellDefined": "ENSP00000367203.4:p.Gln710_Ser1401delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271831" }, { "coordinates": [ { "allele": "T", "end": 2524, "referenceAllele": "C", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.8:c.2077C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.5:p.Gln693Ter", "hgvsWellDefined": "ENSP00000372355.5:p.Gln693_Ser1384delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273898" }, { "coordinates": [ { "allele": "T", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000414389.5:c.920C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS283510" }, { "coordinates": [ { "allele": "T", "end": 1055, "referenceAllele": "C", "start": 1054 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000433797.5:c.1055C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS292713" }, { "coordinates": [ { "allele": "T", "end": 2368, "referenceAllele": "C", "start": 2367 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.5:c.1921C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.2:p.Gln641Ter", "hgvsWellDefined": "ENSP00000437405.2:p.Gln641_Ser1332delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360425" }, { "coordinates": [ { "allele": "T", "end": 2422, "referenceAllele": "C", "start": 2421 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.5:c.1975C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.2:p.Gln659Ter", "hgvsWellDefined": "ENSP00000443078.2:p.Gln659_Leu1269delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValLeuSerSerLysAsnSerGluAlaMetSerAspIleGluGlySerSerHisCysCysArgLysArgAspTyrMetAlaTrpAlaAspLysArgArgThrSerSerLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363890" }, { "coordinates": [ { "allele": "T", "end": 2659, "referenceAllele": "C", "start": 2658 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.4:c.2212C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.1:p.Gln738Ter", "hgvsWellDefined": "ENSP00000483595.1:p.Gln738_Ser1429delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401028" }, { "coordinates": [ { "allele": "T", "end": 1797, "referenceAllele": "C", "start": 1796 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.4:c.1797C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1797C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405143" }, { "@id": "http://reg.genome.network/allele/PA2573195183", "coordinates": [ { "allele": "T", "end": 2661, "referenceAllele": "C", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.1:c.2284C>T", "LRG_616t1:c.2284C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Gln762Ter", "hgvsWellDefined": "NP_001278344.1:p.Gln762_Ser1453delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024209" }, { "@id": "http://reg.genome.network/allele/PA2826796937", "coordinates": [ { "allele": "T", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.1:c.2149C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Gln717Ter", "hgvsWellDefined": "NP_001278345.1:p.Gln717_Ser1408delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024210" }, { "@id": "http://reg.genome.network/allele/PA2826797499", "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.1:c.1993C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Gln665Ter", "hgvsWellDefined": "NP_001278346.1:p.Gln665_Ser1356delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024211" }, { "@id": "http://reg.genome.network/allele/PA2826798041", "coordinates": [ { "allele": "T", "end": 2268, "referenceAllele": "C", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.1:c.1891C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Gln631Ter", "hgvsWellDefined": "NP_001278347.1:p.Gln631_Ser1322delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024212" }, { "@id": "http://reg.genome.network/allele/PA2826798478", "coordinates": [ { "allele": "T", "end": 2249, "referenceAllele": "C", "start": 2248 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.1:c.1240C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Gln414Ter", "hgvsWellDefined": "NP_001278350.1:p.Gln414_Ser1105delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024215" }, { "@id": "http://reg.genome.network/allele/PA2829966931", "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.3:c.2128C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Gln710Ter", "hgvsWellDefined": "NP_066963.2:p.Gln710_Ser1401delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036858" }, { "coordinates": [ { "allele": "T", "end": 2424, "referenceAllele": "C", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.1:n.2424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055150" }, { "coordinates": [ { "allele": "T", "end": 2559, "referenceAllele": "C", "start": 2558 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.3:c.2182C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Gln728Ter", "hgvsWellDefined": "XP_005272713.1:p.Gln728_Ser1419delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067323" }, { "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.3:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Gln676Ter", "hgvsWellDefined": "XP_005272716.1:p.Gln676_Ser1367delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067324" }, { "coordinates": [ { "allele": "T", "end": 2718, "referenceAllele": "C", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543957.1:c.2341C>T" ], "proteinEffect": { "hgvs": "XP_011542259.1:p.Gln781Ter", "hgvsWellDefined": "XP_011542259.1:p.Gln781_Ser1508delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110870" }, { "coordinates": [ { "allele": "T", "end": 2661, "referenceAllele": "C", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.1:c.2284C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Gln762Ter", "hgvsWellDefined": "XP_011542260.1:p.Gln762_Ser1489delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "T", "end": 2616, "referenceAllele": "C", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.2239C>T" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Gln747Ter", "hgvsWellDefined": "XP_011542261.1:p.Gln747_Ser1474delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "T", "end": 2718, "referenceAllele": "C", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.2341C>T" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Gln781Ter", "hgvsWellDefined": "XP_011542262.1:p.Gln781_Ser1472delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "T", "end": 2583, "referenceAllele": "C", "start": 2582 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.2206C>T" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Gln736Ter", "hgvsWellDefined": "XP_011542263.1:p.Gln736_Ser1463delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.2185C>T" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Gln729Ter", "hgvsWellDefined": "XP_011542264.1:p.Gln729_Ser1456delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "T", "end": 2526, "referenceAllele": "C", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.2149C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Gln717Ter", "hgvsWellDefined": "XP_011542265.1:p.Gln717_Ser1444delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Gln710Ter", "hgvsWellDefined": "XP_011542266.1:p.Gln710_Ser1437delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { "coordinates": [ { "allele": "T", "end": 2481, "referenceAllele": "C", "start": 2480 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543965.1:c.2104C>T" ], "proteinEffect": { "hgvs": "XP_011542267.1:p.Gln702Ter", "hgvsWellDefined": "XP_011542267.1:p.Gln702_Ser1429delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "T", "end": 2460, "referenceAllele": "C", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.2083C>T" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Gln695Ter", "hgvsWellDefined": "XP_011542268.1:p.Gln695_Ser1422delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.2185C>T" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Gln729Ter", "hgvsWellDefined": "XP_011542269.1:p.Gln729_Ser1420delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "T", "end": 2427, "referenceAllele": "C", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.2050C>T" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Gln684Ter", "hgvsWellDefined": "XP_011542270.1:p.Gln684_Ser1411delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "T", "end": 2424, "referenceAllele": "C", "start": 2423 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.2047C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Gln683Ter", "hgvsWellDefined": "XP_011542271.1:p.Gln683_Ser1410delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Gln676Ter", "hgvsWellDefined": "XP_011542272.1:p.Gln676_Ser1403delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "T", "end": 2481, "referenceAllele": "C", "start": 2480 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.2104C>T" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Gln702Ter", "hgvsWellDefined": "XP_011542273.1:p.Gln702_Ser1393delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.1:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Gln665Ter", "hgvsWellDefined": "XP_011542274.1:p.Gln665_Ser1392delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110885" }, { "coordinates": [ { "allele": "T", "end": 2427, "referenceAllele": "C", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543973.1:c.2050C>T" ], "proteinEffect": { "hgvs": "XP_011542275.1:p.Gln684Ter", "hgvsWellDefined": "XP_011542275.1:p.Gln684_Ser1375delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110886" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.1:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Gln710Ter", "hgvsWellDefined": "XP_011542276.1:p.Gln710_Lys1293delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110887" }, { "coordinates": [ { "allele": "T", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.1:c.1531C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Gln511Ter", "hgvsWellDefined": "XP_011542277.1:p.Gln511_Ser1238delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110888" }, { "coordinates": [ { "allele": "T", "end": 2718, "referenceAllele": "C", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543976.1:c.2341C>T" ], "proteinEffect": { "hgvs": "XP_011542278.1:p.Gln781Ter", "hgvsWellDefined": "XP_011542278.1:p.Gln781_Ile1218delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGluIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110889" }, { "coordinates": [ { "allele": "T", "end": 2718, "referenceAllele": "C", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_949018.1:n.2718C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS142596" }, { "coordinates": [ { "allele": "T", "end": 2552, "referenceAllele": "C", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.5:c.2182C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Gln728Ter", "hgvsWellDefined": "XP_005272713.1:p.Gln728_Ser1419delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537336" }, { "coordinates": [ { "allele": "T", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.5:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Gln676Ter", "hgvsWellDefined": "XP_005272716.1:p.Gln676_Ser1367delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537337" }, { "coordinates": [ { "allele": "T", "end": 2654, "referenceAllele": "C", "start": 2653 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.3:c.2284C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Gln762Ter", "hgvsWellDefined": "XP_011542260.1:p.Gln762_Ser1489delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555444" }, { "coordinates": [ { "allele": "T", "end": 2519, "referenceAllele": "C", "start": 2518 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.3:c.2149C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Gln717Ter", "hgvsWellDefined": "XP_011542265.1:p.Gln717_Ser1444delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555445" }, { "coordinates": [ { "allele": "T", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Gln710Ter", "hgvsWellDefined": "XP_011542266.1:p.Gln710_Ser1437delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { "coordinates": [ { "allele": "T", "end": 2417, "referenceAllele": "C", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.3:c.2047C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Gln683Ter", "hgvsWellDefined": "XP_011542271.1:p.Gln683_Ser1410delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555447" }, { "coordinates": [ { "allele": "T", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.3:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Gln676Ter", "hgvsWellDefined": "XP_011542272.1:p.Gln676_Ser1403delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555448" }, { "coordinates": [ { "allele": "T", "end": 2363, "referenceAllele": "C", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Gln665Ter", "hgvsWellDefined": "XP_011542274.1:p.Gln665_Ser1392delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { "coordinates": [ { "allele": "T", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.2:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Gln710Ter", "hgvsWellDefined": "XP_011542276.1:p.Gln710_Lys1293delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555450" }, { "coordinates": [ { "allele": "T", "end": 1831, "referenceAllele": "C", "start": 1830 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.2:c.1531C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Gln511Ter", "hgvsWellDefined": "XP_011542277.1:p.Gln511_Ser1238delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555451" }, { "coordinates": [ { "allele": "T", "end": 2417, "referenceAllele": "C", "start": 2416 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029783.2:c.2047C>T" ], "proteinEffect": { "hgvs": "XP_016885272.1:p.Gln683Ter", "hgvsWellDefined": "XP_016885272.1:p.Gln683_Ser1374delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579277" }, { "coordinates": [ { "allele": "T", "end": 1971, "referenceAllele": "C", "start": 1970 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029784.1:c.1396C>T" ], "proteinEffect": { "hgvs": "XP_016885273.1:p.Gln466Ter", "hgvsWellDefined": "XP_016885273.1:p.Gln466_Ser1193delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579278" }, { "coordinates": [ { "allele": "T", "end": 1944, "referenceAllele": "C", "start": 1943 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.1138C>T" ], "proteinEffect": { "hgvs": "XP_016885274.1:p.Gln380Ter", "hgvsWellDefined": "XP_016885274.1:p.Gln380_Ser1071delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "T", "end": 2552, "referenceAllele": "C", "start": 2551 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.2182C>T" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Gln728Ter", "hgvsWellDefined": "XP_024308206.1:p.Gln728_Ser1455delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "T", "end": 2292, "referenceAllele": "C", "start": 2291 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.1759C>T" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Gln587Ter", "hgvsWellDefined": "XP_024308207.1:p.Gln587_Ser1314delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "T", "end": 2654, "referenceAllele": "C", "start": 2653 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.2654C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "@id": "http://reg.genome.network/allele/PA2573195183", "coordinates": [ { "allele": "T", "end": 2648, "referenceAllele": "C", "start": 2647 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.2284C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Gln762Ter", "hgvsWellDefined": "NP_001278344.1:p.Gln762_Ser1453delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2284C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2284C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Gln762Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Gln762Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826796937", "coordinates": [ { "allele": "T", "end": 2513, "referenceAllele": "C", "start": 2512 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.2149C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Gln717Ter", "hgvsWellDefined": "NP_001278345.1:p.Gln717_Ser1408delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "@id": "http://reg.genome.network/allele/PA2826797499", "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.1993C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Gln665Ter", "hgvsWellDefined": "NP_001278346.1:p.Gln665_Ser1356delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "@id": "http://reg.genome.network/allele/PA2826798041", "coordinates": [ { "allele": "T", "end": 2255, "referenceAllele": "C", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.1891C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Gln631Ter", "hgvsWellDefined": "NP_001278347.1:p.Gln631_Ser1322delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "@id": "http://reg.genome.network/allele/PA2826798478", "coordinates": [ { "allele": "T", "end": 2236, "referenceAllele": "C", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.1240C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Gln414Ter", "hgvsWellDefined": "NP_001278350.1:p.Gln414_Ser1105delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "@id": "http://reg.genome.network/allele/PA2829966931", "coordinates": [ { "allele": "T", "end": 2492, "referenceAllele": "C", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.2128C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Gln710Ter", "hgvsWellDefined": "NP_066963.2:p.Gln710_Ser1401delinsGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "T", "end": 2411, "referenceAllele": "C", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.2411C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }