{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA412782971", "communityStandardTitle": [ "NM_001291415.2(KDM6A):c.1177C>T (p.Arg393Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5437775", "active": true, "id": "COSM5437775" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5437776", "active": true, "id": "COSM5437776" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5437777", "active": true, "id": "COSM5437777" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1438855[alleleid]", "alleleId": 1438855, "preferredName": "NM_001291415.2(KDM6A):c.1177C>T (p.Arg393Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1452097", "RCV": [ "RCV002007550" ], "variationId": 1452097 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.44918694C>T?assembly=hg19", "id": "chrX:g.44918694C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.45059449C>T?assembly=hg38", "id": "chrX:g.45059449C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2147963446", "rs": 2147963446 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 45059449, "referenceAllele": "C", "start": 45059448 } ], "hgvs": [ "NC_000023.11:g.45059449C>T", "CM000685.2:g.45059449C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44918694, "referenceAllele": "C", "start": 44918693 } ], "hgvs": [ "NC_000023.10:g.44918694C>T", "CM000685.1:g.44918694C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44803638, "referenceAllele": "C", "start": 44803637 } ], "hgvs": [ "NC_000023.9:g.44803638C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 191272, "referenceAllele": "C", "start": 191271 } ], "hgvs": [ "NG_016260.1:g.191272C>T", "LRG_616:g.191272C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.5:c.1083C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1083C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826552" }, { "coordinates": [ { "allele": "T", "end": 1056, "referenceAllele": "C", "start": 1055 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682908.1:c.1056C>T" ], "proteinEffect": { "hgvs": "ENSP00000508158.1:n.1056C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827896" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683021.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000507416.1:p.Arg393Ter", "hgvsWellDefined": "ENSP00000507416.1:p.Arg393_Ser1374delinsIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828008" }, { "coordinates": [ { "allele": "T", "end": 1154, "referenceAllele": "C", "start": 1153 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683425.1:c.*639C>T" ], "proteinEffect": { "hgvs": "ENSP00000507291.1:n.*639C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828402" }, { "coordinates": [ { "allele": "T", "end": 1177, "referenceAllele": "C", "start": 1176 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000684352.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000508379.1:p.Arg393Ter", "hgvsWellDefined": "ENSP00000508379.1:p.Arg393_Pro842delinsIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnProPheGlnGlnGlnHisLeuLeuGlnAsnProLeuSerArgGlnProGlnThrValLeuProAlaLeuThrAlaLeuThrValGlyTyrThrGlnLeuMetGluLysGlyTrpLysAsnLeuArgAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829307" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.9:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752006" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.9:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.6:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS752693" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.6:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.3:p.Arg393Ter", "hgvsWellDefined": "ENSP00000437405.3:p.Arg393_Ser1356delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759500" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.6:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.3:p.Arg393Ter", "hgvsWellDefined": "ENSP00000443078.3:p.Arg393_Ser1322delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759724" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.5:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.2:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS761844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.1177C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.1177C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Arg393Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Arg393Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674541.1:c.*600C>T" ], "proteinEffect": { "hgvs": "ENSP00000501919.1:n.*600C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774493" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674564.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000502150.1:p.Arg393Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS774514" }, { "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "C", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674586.1:c.1234C>T" ], "proteinEffect": { "hgvs": "ENSP00000502660.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774531" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674659.1:c.*600C>T" ], "proteinEffect": { "hgvs": "ENSP00000502255.1:n.*600C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774595" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674739.1:n.1541C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774661" }, { "coordinates": [ { "allele": "T", "end": 1382, "referenceAllele": "C", "start": 1381 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674867.1:c.1018C>T" ], "proteinEffect": { "hgvs": "ENSP00000502060.1:p.Arg340Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS774764" }, { "coordinates": [ { "allele": "T", "end": 1021, "referenceAllele": "C", "start": 1020 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675157.1:n.1021C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775022" }, { "coordinates": [ { "allele": "T", "end": 1061, "referenceAllele": "C", "start": 1060 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675182.1:n.1061C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775043" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675440.1:n.1332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775263" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675514.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000502759.1:p.Arg393Ter", "hgvsWellDefined": "ENSP00000502759.1:p.Arg393_Lys1129delinsIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysAsnArgLysSerSerLysProCysTrpSerTyrHisIleGlyHisGluHisSerSerThrIleHisGluSerSerArgGluGlnAsnThrArgSerSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775323" }, { "coordinates": [ { "allele": "T", "end": 3278, "referenceAllele": "C", "start": 3277 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675525.1:n.3278C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775332" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675577.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000501855.1:p.Arg393Ter", "hgvsWellDefined": "ENSP00000501855.1:p.Arg393_Ser1367delinsIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775377" }, { "coordinates": [ { "allele": "T", "end": 1332, "referenceAllele": "C", "start": 1331 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675816.1:n.1332C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775586" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676062.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000502311.1:p.Arg393Ter", "hgvsWellDefined": "ENSP00000502311.1:p.Arg393_Glu1336delinsIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775799" }, { "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676085.1:c.*600C>T" ], "proteinEffect": { "hgvs": "ENSP00000501752.1:n.*600C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775819" }, { "coordinates": [ { "allele": "T", "end": 1491, "referenceAllele": "C", "start": 1490 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676133.1:c.*746C>T" ], "proteinEffect": { "hgvs": "ENSP00000502586.1:n.*746C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775859" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676343.1:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000501761.1:p.Arg393Ter", "hgvsWellDefined": "ENSP00000501761.1:p.Arg393_Phe1256delinsIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrGlyIleValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776036" }, { "coordinates": [ { "allele": "T", "end": 1136, "referenceAllele": "C", "start": 1135 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676389.1:n.1136C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776078" }, { "coordinates": [ { "allele": "T", "end": 1218, "referenceAllele": "C", "start": 1217 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.8:c.1177C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS271831" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.8:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.5:p.Arg369Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS273898" }, { "coordinates": [ { "allele": "T", "end": 104, "referenceAllele": "C", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000414389.5:c.104C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS283510" }, { "coordinates": [ { "allele": "T", "end": 168, "referenceAllele": "C", "start": 167 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000451692.5:c.168C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS301291" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.5:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.2:p.Arg369Ter", "hgvsWellDefined": "ENSP00000437405.2:p.Arg369_Ser1332delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360425" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.5:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.2:p.Arg369Ter", "hgvsWellDefined": "ENSP00000443078.2:p.Arg369_Leu1269delinsIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValLeuSerSerLysAsnSerGluAlaMetSerAspIleGluGlySerSerHisCysCysArgLysArgAspTyrMetAlaTrpAlaAspLysArgArgThrSerSerLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363890" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.4:c.1105C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.1:p.Arg369Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS401028" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.4:c.1083C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1083C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405143" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.1:c.1177C>T", "LRG_616t1:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS024209" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.1:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS024210" }, { "@id": "http://reg.genome.network/allele/PA2826797369", "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.1:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Arg393Ter", "hgvsWellDefined": "NP_001278346.1:p.Arg393_Ser1356delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024211" }, { "@id": "http://reg.genome.network/allele/PA2826797929", "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.1:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Arg393Ter", "hgvsWellDefined": "NP_001278347.1:p.Arg393_Ser1322delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024212" }, { "@id": "http://reg.genome.network/allele/PA2826798348", "coordinates": [ { "allele": "T", "end": 1433, "referenceAllele": "C", "start": 1432 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.1:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Arg142Ter", "hgvsWellDefined": "NP_001278350.1:p.Arg142_Ser1105delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024215" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.3:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS036858" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.1:n.1554C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055150" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS067323" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Arg393Ter", "hgvsWellDefined": "XP_005272716.1:p.Arg393_Ser1367delinsIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067324" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543957.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542259.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110870" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543965.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542267.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Arg412Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Arg412Ter", "hgvsWellDefined": "XP_011542270.1:p.Arg412_Ser1411delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Arg412Ter", "hgvsWellDefined": "XP_011542273.1:p.Arg412_Ser1393delinsIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Arg393Ter", "hgvsWellDefined": "XP_011542274.1:p.Arg393_Ser1392delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110885" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543973.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542275.1:p.Arg412Ter", "hgvsWellDefined": "XP_011542275.1:p.Arg412_Ser1375delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110886" }, { "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "C", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Arg393Ter", "hgvsWellDefined": "XP_011542276.1:p.Arg393_Lys1293delinsIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110887" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Arg142Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS110888" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543976.1:c.1234C>T" ], "proteinEffect": { "hgvs": "XP_011542278.1:p.Arg412Ter", "hgvsWellDefined": "XP_011542278.1:p.Arg412_Ile1218delinsIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGluIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110889" }, { "coordinates": [ { "allele": "T", "end": 1611, "referenceAllele": "C", "start": 1610 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_949018.1:n.1611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS142596" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.5:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS537336" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.5:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Arg393Ter", "hgvsWellDefined": "XP_005272716.1:p.Arg393_Ser1367delinsIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537337" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555444" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555445" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555447" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555448" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Arg393Ter", "hgvsWellDefined": "XP_011542274.1:p.Arg393_Ser1392delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.2:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Arg393Ter", "hgvsWellDefined": "XP_011542276.1:p.Arg393_Lys1293delinsIleLysTyrLeuGlnAlaGlnLeuCysAsnLeuProGlnGlySerLeuGlnAsnLysThrLysLeuLeuProSerIleGluGluAlaTrpSerLeuProIleProAlaGluLeuThrSerArgGlnGlyAlaMetAsnThrAlaGlnGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555450" }, { "coordinates": [ { "allele": "T", "end": 724, "referenceAllele": "C", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.2:c.424C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Arg142Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS555451" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029783.2:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_016885272.1:p.Arg393Ter", "hgvsWellDefined": "XP_016885272.1:p.Arg393_Ser1374delinsIleLysTyrLeuGlnAlaCysLysProHisHisProAsnThrGluProValLeuGlyLeuSerGlnThrProIleSerGlnGlnSerLeuProLeuHisMetIleProSerSerGlnValAspAspLeuSerSerProAlaLysArgLysArgThrSerSerProThrLysAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579277" }, { "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "C", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029784.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_016885273.1:p.Arg142Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS579278" }, { "coordinates": [ { "allele": "T", "end": 1230, "referenceAllele": "C", "start": 1229 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.424C>T" ], "proteinEffect": { "hgvs": "XP_016885274.1:p.Arg142Ter", "hgvsWellDefined": "XP_016885274.1:p.Arg142_Ser1071delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.1177C>T" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "C", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.652C>T" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Arg218Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "T", "end": 1547, "referenceAllele": "C", "start": 1546 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.1547C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.1177C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.1177C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Arg393Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Arg393Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "@id": "http://reg.genome.network/allele/PA2826797369", "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Arg393Ter", "hgvsWellDefined": "NP_001278346.1:p.Arg393_Ser1356delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "@id": "http://reg.genome.network/allele/PA2826797929", "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Arg393Ter", "hgvsWellDefined": "NP_001278347.1:p.Arg393_Ser1322delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "@id": "http://reg.genome.network/allele/PA2826798348", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "C", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.424C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Arg142Ter", "hgvsWellDefined": "NP_001278350.1:p.Arg142_Ser1105delinsIleLysTyrLeuGlnAsnThrSerAspAsnTrpSerGlyGlyHisAlaValSerHisProProValGlnGlnGlnAlaHisSerTrpCysLeuThrProGlnLysLeuGlnHisLeuGluGlnLeuArgAlaAsnArgAsnAsnLeuAsnProAlaGlnLysLeuMetLeuGluGlnLeuGluSerGlnPheValLeuMetGlnGlnHisGlnMetArgProThrGlyValAlaGlnValArgSerThrGlyIleProAsnGlyProThrAlaAspSerSerLeuProThrAsnSerValSerGlyGlnGlnProGlnLeuAlaLeuThrArgValProSerValSerGlnProGlyValArgProAlaCysProGlyGlnProLeuAlaAsnGlyProPheSerAlaGlyHisValProCysSerThrSerArgThrLeuGlySerThrAspThrIleLeuIleGlyAsnAsnHisIleThrGlySerGlySerAsnGlyAsnValProTyrLeuGlnArgAsnAlaLeuThrLeuProHisAsnArgThrAsnLeuThrSerSerAlaGluGluProTrpLysAsnGlnLeuSerAsnSerThrGlnGlyLeuHisLysGlyGlnSerSerHisSerAlaGlyProAsnGlyGluArgProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.1177C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Arg393Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "T", "end": 1541, "referenceAllele": "C", "start": 1540 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.1541C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }