{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10392470", "communityStandardTitle": [ "NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5472881", "active": true, "id": "COSM5472881" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5472882", "active": true, "id": "COSM5472882" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5472883", "active": true, "id": "COSM5472883" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=611948[alleleid]", "alleleId": 611948, "preferredName": "NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/620434", "RCV": [ "RCV000760811", "RCV001779074", "RCV003642916" ], "variationId": 620434 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/X-44928872-C-T", "id": "X-44928872-C-T", "variant": "X:44928872 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.44928872C>T?assembly=hg19", "id": "chrX:g.44928872C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.45069627C>T?assembly=hg38", "id": "chrX:g.45069627C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/755440519", "rs": 755440519 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 45069627, "referenceAllele": "C", "start": 45069626 } ], "hgvs": [ "NC_000023.11:g.45069627C>T", "CM000685.2:g.45069627C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44928872, "referenceAllele": "C", "start": 44928871 } ], "hgvs": [ "NC_000023.10:g.44928872C>T", "CM000685.1:g.44928872C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 44813816, "referenceAllele": "C", "start": 44813815 } ], "hgvs": [ "NC_000023.9:g.44813816C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 201450, "referenceAllele": "C", "start": 201449 } ], "hgvs": [ "NG_016260.1:g.201450C>T", "LRG_616:g.201450C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003051" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.5:c.1641C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1641C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS826552" }, { "coordinates": [ { "allele": "T", "end": 1872, "referenceAllele": "C", "start": 1871 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000682908.1:c.1872C>T" ], "proteinEffect": { "hgvs": "ENSP00000508158.1:n.1872C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827896" }, { "coordinates": [ { "allele": "T", "end": 1891, "referenceAllele": "C", "start": 1890 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683021.1:c.1891C>T" ], "proteinEffect": { "hgvs": "ENSP00000507416.1:p.Arg631Ter", "hgvsWellDefined": "ENSP00000507416.1:p.Arg631_Ser1374delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828008" }, { "coordinates": [ { "allele": "T", "end": 1970, "referenceAllele": "C", "start": 1969 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000683425.1:c.*1455C>T" ], "proteinEffect": { "hgvs": "ENSP00000507291.1:n.*1455C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS828402" }, { "coordinates": [ { "allele": "T", "end": 1993, "referenceAllele": "C", "start": 1992 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000684352.1:c.1993C>T" ], "proteinEffect": { "hgvs": "ENSP00000508379.1:p.Arg665Ter", "hgvsWellDefined": "ENSP00000508379.1:p.Arg665_Pro842delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnProPheGlnGlnGlnHisLeuLeuGlnAsnProLeuSerArgGlnProGlnThrValLeuProAlaLeuThrAlaLeuThrValGlyTyrThrGlnLeuMetGluLysGlyTrpLysAsnLeuArgAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829307" }, { "coordinates": [ { "allele": "T", "end": 2336, "referenceAllele": "C", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.9:c.1972C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Arg658Ter", "hgvsWellDefined": "ENSP00000367203.4:p.Arg658_Ser1401delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752006" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.9:c.1993C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.6:p.Arg665Ter", "hgvsWellDefined": "ENSP00000372355.6:p.Arg665_Ser1408delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752693" }, { "coordinates": [ { "allele": "T", "end": 2201, "referenceAllele": "C", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.6:c.1837C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.3:p.Arg613Ter", "hgvsWellDefined": "ENSP00000437405.3:p.Arg613_Ser1356delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759500" }, { "coordinates": [ { "allele": "T", "end": 2099, "referenceAllele": "C", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.6:c.1735C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.3:p.Arg579Ter", "hgvsWellDefined": "ENSP00000443078.3:p.Arg579_Ser1322delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759724" }, { "coordinates": [ { "allele": "T", "end": 2492, "referenceAllele": "C", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.5:c.2128C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.2:p.Arg710Ter", "hgvsWellDefined": "ENSP00000483595.2:p.Arg710_Ser1453delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2128C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2128C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Arg710Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Arg710Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2080, "referenceAllele": "C", "start": 2079 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674541.1:c.*1260C>T" ], "proteinEffect": { "hgvs": "ENSP00000501919.1:n.*1260C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774493" }, { "coordinates": [ { "allele": "T", "end": 2255, "referenceAllele": "C", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674564.1:c.1891C>T" ], "proteinEffect": { "hgvs": "ENSP00000502150.1:p.Arg631Ter", "hgvsWellDefined": "ENSP00000502150.1:p.Arg631_Leu1293delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValLeuSerSerLysAsnSerGluAlaMetSerAspIleGluGlySerSerHisCysCysArgLysArgAspTyrMetAlaTrpAlaAspLysArgArgThrSerSerLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774514" }, { "coordinates": [ { "allele": "T", "end": 2414, "referenceAllele": "C", "start": 2413 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674586.1:c.2050C>T" ], "proteinEffect": { "hgvs": "ENSP00000502660.1:p.Arg684Ter", "hgvsWellDefined": "ENSP00000502660.1:p.Arg684_Ser1427delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774531" }, { "coordinates": [ { "allele": "T", "end": 2236, "referenceAllele": "C", "start": 2235 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674659.1:c.*1416C>T" ], "proteinEffect": { "hgvs": "ENSP00000502255.1:n.*1416C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS774595" }, { "coordinates": [ { "allele": "T", "end": 3030, "referenceAllele": "C", "start": 3029 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674739.1:n.3030C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS774661" }, { "coordinates": [ { "allele": "T", "end": 2198, "referenceAllele": "C", "start": 2197 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000674867.1:c.1834C>T" ], "proteinEffect": { "hgvs": "ENSP00000502060.1:p.Arg612Ter", "hgvsWellDefined": "ENSP00000502060.1:p.Arg612_Ser1355delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS774764" }, { "coordinates": [ { "allele": "T", "end": 1579, "referenceAllele": "C", "start": 1578 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675157.1:n.1579C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775022" }, { "coordinates": [ { "allele": "T", "end": 2012, "referenceAllele": "C", "start": 2011 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675182.1:n.2012C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775043" }, { "coordinates": [ { "allele": "T", "end": 2148, "referenceAllele": "C", "start": 2147 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675440.1:n.2148C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775263" }, { "coordinates": [ { "allele": "T", "end": 2336, "referenceAllele": "C", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675514.1:c.1972C>T" ], "proteinEffect": { "hgvs": "ENSP00000502759.1:p.Arg658Ter", "hgvsWellDefined": "ENSP00000502759.1:p.Arg658_Lys1129delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysAsnArgLysSerSerLysProCysTrpSerTyrHisIleGlyHisGluHisSerSerThrIleHisGluSerSerArgGluGlnAsnThrArgSerSerGlyLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775323" }, { "coordinates": [ { "allele": "T", "end": 4094, "referenceAllele": "C", "start": 4093 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675525.1:n.4094C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775332" }, { "coordinates": [ { "allele": "T", "end": 2339, "referenceAllele": "C", "start": 2338 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675546.1:n.2339C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775348" }, { "coordinates": [ { "allele": "T", "end": 2234, "referenceAllele": "C", "start": 2233 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675577.1:c.1870C>T" ], "proteinEffect": { "hgvs": "ENSP00000501855.1:p.Arg624Ter", "hgvsWellDefined": "ENSP00000501855.1:p.Arg624_Ser1367delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775377" }, { "coordinates": [ { "allele": "T", "end": 2148, "referenceAllele": "C", "start": 2147 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000675816.1:n.2148C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS775586" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676062.1:c.1993C>T" ], "proteinEffect": { "hgvs": "ENSP00000502311.1:p.Arg665Ter", "hgvsWellDefined": "ENSP00000502311.1:p.Arg665_Glu1336delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775799" }, { "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "C", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676085.1:c.*1158C>T" ], "proteinEffect": { "hgvs": "ENSP00000501752.1:n.*1158C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775819" }, { "coordinates": [ { "allele": "T", "end": 2770, "referenceAllele": "C", "start": 2769 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676133.1:c.*2025C>T" ], "proteinEffect": { "hgvs": "ENSP00000502586.1:n.*2025C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775859" }, { "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676343.1:c.1993C>T" ], "proteinEffect": { "hgvs": "ENSP00000501761.1:p.Arg665Ter", "hgvsWellDefined": "ENSP00000501761.1:p.Arg665_Phe1256delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrGlyIleValPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS776036" }, { "coordinates": [ { "allele": "T", "end": 2415, "referenceAllele": "C", "start": 2414 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000676389.1:n.2415C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS776078" }, { "coordinates": [ { "allele": "T", "end": 2013, "referenceAllele": "C", "start": 2012 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000377967.8:c.1972C>T" ], "proteinEffect": { "hgvs": "ENSP00000367203.4:p.Arg658Ter", "hgvsWellDefined": "ENSP00000367203.4:p.Arg658_Ser1401delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271831" }, { "coordinates": [ { "allele": "T", "end": 2368, "referenceAllele": "C", "start": 2367 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000382899.8:c.1921C>T" ], "proteinEffect": { "hgvs": "ENSP00000372355.5:p.Arg641Ter", "hgvsWellDefined": "ENSP00000372355.5:p.Arg641_Ser1384delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS273898" }, { "coordinates": [ { "allele": "T", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000414389.5:c.764C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS283510" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000433797.5:c.899C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS292713" }, { "coordinates": [ { "allele": "T", "end": 2212, "referenceAllele": "C", "start": 2211 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000536777.5:c.1765C>T" ], "proteinEffect": { "hgvs": "ENSP00000437405.2:p.Arg589Ter", "hgvsWellDefined": "ENSP00000437405.2:p.Arg589_Ser1332delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360425" }, { "coordinates": [ { "allele": "T", "end": 2266, "referenceAllele": "C", "start": 2265 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000543216.5:c.1819C>T" ], "proteinEffect": { "hgvs": "ENSP00000443078.2:p.Arg607Ter", "hgvsWellDefined": "ENSP00000443078.2:p.Arg607_Leu1269delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValLeuSerSerLysAsnSerGluAlaMetSerAspIleGluGlySerSerHisCysCysArgLysArgAspTyrMetAlaTrpAlaAspLysArgArgThrSerSerLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363890" }, { "coordinates": [ { "allele": "T", "end": 2503, "referenceAllele": "C", "start": 2502 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000611820.4:c.2056C>T" ], "proteinEffect": { "hgvs": "ENSP00000483595.1:p.Arg686Ter", "hgvsWellDefined": "ENSP00000483595.1:p.Arg686_Ser1429delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401028" }, { "coordinates": [ { "allele": "T", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "ENST00000621147.4:c.1641C>T" ], "proteinEffect": { "hgvs": "ENSP00000478793.1:n.1641C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS405143" }, { "@id": "http://reg.genome.network/allele/PA913201575", "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.1:c.2128C>T", "LRG_616t1:c.2128C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Arg710Ter", "hgvsWellDefined": "NP_001278344.1:p.Arg710_Ser1453delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024209" }, { "@id": "http://reg.genome.network/allele/PA2826796912", "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.1:c.1993C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Arg665Ter", "hgvsWellDefined": "NP_001278345.1:p.Arg665_Ser1408delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024210" }, { "@id": "http://reg.genome.network/allele/PA2826797473", "coordinates": [ { "allele": "T", "end": 2214, "referenceAllele": "C", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.1:c.1837C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Arg613Ter", "hgvsWellDefined": "NP_001278346.1:p.Arg613_Ser1356delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024211" }, { "@id": "http://reg.genome.network/allele/PA2826798017", "coordinates": [ { "allele": "T", "end": 2112, "referenceAllele": "C", "start": 2111 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.1:c.1735C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Arg579Ter", "hgvsWellDefined": "NP_001278347.1:p.Arg579_Ser1322delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024212" }, { "@id": "http://reg.genome.network/allele/PA2826798453", "coordinates": [ { "allele": "T", "end": 2093, "referenceAllele": "C", "start": 2092 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.1:c.1084C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Arg362Ter", "hgvsWellDefined": "NP_001278350.1:p.Arg362_Ser1105delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024215" }, { "@id": "http://reg.genome.network/allele/PA2829966897", "coordinates": [ { "allele": "T", "end": 2349, "referenceAllele": "C", "start": 2348 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.3:c.1972C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Arg658Ter", "hgvsWellDefined": "NP_066963.2:p.Arg658_Ser1401delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS036858" }, { "coordinates": [ { "allele": "T", "end": 2268, "referenceAllele": "C", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.1:n.2268C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS055150" }, { "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.3:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Arg676Ter", "hgvsWellDefined": "XP_005272713.1:p.Arg676_Ser1419delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067323" }, { "coordinates": [ { "allele": "T", "end": 2247, "referenceAllele": "C", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.3:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Arg624Ter", "hgvsWellDefined": "XP_005272716.1:p.Arg624_Ser1367delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS067324" }, { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543957.1:c.2185C>T" ], "proteinEffect": { "hgvs": "XP_011542259.1:p.Arg729Ter", "hgvsWellDefined": "XP_011542259.1:p.Arg729_Ser1508delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110870" }, { "coordinates": [ { "allele": "T", "end": 2505, "referenceAllele": "C", "start": 2504 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.1:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Arg710Ter", "hgvsWellDefined": "XP_011542260.1:p.Arg710_Ser1489delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "T", "end": 2460, "referenceAllele": "C", "start": 2459 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.2083C>T" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Arg695Ter", "hgvsWellDefined": "XP_011542261.1:p.Arg695_Ser1474delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.2185C>T" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Arg729Ter", "hgvsWellDefined": "XP_011542262.1:p.Arg729_Ser1472delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "T", "end": 2427, "referenceAllele": "C", "start": 2426 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.2050C>T" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Arg684Ter", "hgvsWellDefined": "XP_011542263.1:p.Arg684_Ser1463delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "C", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.2029C>T" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Arg677Ter", "hgvsWellDefined": "XP_011542264.1:p.Arg677_Ser1456delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "T", "end": 2370, "referenceAllele": "C", "start": 2369 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Arg665Ter", "hgvsWellDefined": "XP_011542265.1:p.Arg665_Ser1444delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "T", "end": 2349, "referenceAllele": "C", "start": 2348 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.1972C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg658Ter", "hgvsWellDefined": "XP_011542266.1:p.Arg658_Ser1437delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { "coordinates": [ { "allele": "T", "end": 2325, "referenceAllele": "C", "start": 2324 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543965.1:c.1948C>T" ], "proteinEffect": { "hgvs": "XP_011542267.1:p.Arg650Ter", "hgvsWellDefined": "XP_011542267.1:p.Arg650_Ser1429delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "T", "end": 2304, "referenceAllele": "C", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.1927C>T" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Arg643Ter", "hgvsWellDefined": "XP_011542268.1:p.Arg643_Ser1422delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "T", "end": 2406, "referenceAllele": "C", "start": 2405 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.2029C>T" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Arg677Ter", "hgvsWellDefined": "XP_011542269.1:p.Arg677_Ser1420delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "T", "end": 2271, "referenceAllele": "C", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.1894C>T" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Arg632Ter", "hgvsWellDefined": "XP_011542270.1:p.Arg632_Ser1411delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "T", "end": 2268, "referenceAllele": "C", "start": 2267 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.1891C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Arg631Ter", "hgvsWellDefined": "XP_011542271.1:p.Arg631_Ser1410delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "T", "end": 2247, "referenceAllele": "C", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Arg624Ter", "hgvsWellDefined": "XP_011542272.1:p.Arg624_Ser1403delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "T", "end": 2325, "referenceAllele": "C", "start": 2324 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.1948C>T" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Arg650Ter", "hgvsWellDefined": "XP_011542273.1:p.Arg650_Ser1393delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "T", "end": 2214, "referenceAllele": "C", "start": 2213 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.1:c.1837C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Arg613Ter", "hgvsWellDefined": "XP_011542274.1:p.Arg613_Ser1392delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110885" }, { "coordinates": [ { "allele": "T", "end": 2271, "referenceAllele": "C", "start": 2270 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543973.1:c.1894C>T" ], "proteinEffect": { "hgvs": "XP_011542275.1:p.Arg632Ter", "hgvsWellDefined": "XP_011542275.1:p.Arg632_Ser1375delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110886" }, { "coordinates": [ { "allele": "T", "end": 2349, "referenceAllele": "C", "start": 2348 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.1:c.1972C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Arg658Ter", "hgvsWellDefined": "XP_011542276.1:p.Arg658_Lys1293delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110887" }, { "coordinates": [ { "allele": "T", "end": 1675, "referenceAllele": "C", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.1:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Arg459Ter", "hgvsWellDefined": "XP_011542277.1:p.Arg459_Ser1238delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110888" }, { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543976.1:c.2185C>T" ], "proteinEffect": { "hgvs": "XP_011542278.1:p.Arg729Ter", "hgvsWellDefined": "XP_011542278.1:p.Arg729_Ile1218delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGluIleIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110889" }, { "coordinates": [ { "allele": "T", "end": 2562, "referenceAllele": "C", "start": 2561 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_949018.1:n.2562C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS142596" }, { "coordinates": [ { "allele": "T", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272656.5:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_005272713.1:p.Arg676Ter", "hgvsWellDefined": "XP_005272713.1:p.Arg676_Ser1419delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537336" }, { "coordinates": [ { "allele": "T", "end": 2240, "referenceAllele": "C", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_005272659.5:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_005272716.1:p.Arg624Ter", "hgvsWellDefined": "XP_005272716.1:p.Arg624_Ser1367delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS537337" }, { "coordinates": [ { "allele": "T", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543958.3:c.2128C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Arg710Ter", "hgvsWellDefined": "XP_011542260.1:p.Arg710_Ser1489delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555444" }, { "coordinates": [ { "allele": "T", "end": 2363, "referenceAllele": "C", "start": 2362 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.3:c.1993C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Arg665Ter", "hgvsWellDefined": "XP_011542265.1:p.Arg665_Ser1444delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555445" }, { "coordinates": [ { "allele": "T", "end": 2342, "referenceAllele": "C", "start": 2341 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.1972C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg658Ter", "hgvsWellDefined": "XP_011542266.1:p.Arg658_Ser1437delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { "coordinates": [ { "allele": "T", "end": 2261, "referenceAllele": "C", "start": 2260 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.3:c.1891C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Arg631Ter", "hgvsWellDefined": "XP_011542271.1:p.Arg631_Ser1410delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555447" }, { "coordinates": [ { "allele": "T", "end": 2240, "referenceAllele": "C", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.3:c.1870C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Arg624Ter", "hgvsWellDefined": "XP_011542272.1:p.Arg624_Ser1403delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555448" }, { "coordinates": [ { "allele": "T", "end": 2207, "referenceAllele": "C", "start": 2206 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.1837C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Arg613Ter", "hgvsWellDefined": "XP_011542274.1:p.Arg613_Ser1392delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { "coordinates": [ { "allele": "T", "end": 2342, "referenceAllele": "C", "start": 2341 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543974.2:c.1972C>T" ], "proteinEffect": { "hgvs": "XP_011542276.1:p.Arg658Ter", "hgvsWellDefined": "XP_011542276.1:p.Arg658_Lys1293delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555450" }, { "coordinates": [ { "allele": "T", "end": 1675, "referenceAllele": "C", "start": 1674 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543975.2:c.1375C>T" ], "proteinEffect": { "hgvs": "XP_011542277.1:p.Arg459Ter", "hgvsWellDefined": "XP_011542277.1:p.Arg459_Ser1238delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555451" }, { "coordinates": [ { "allele": "T", "end": 2261, "referenceAllele": "C", "start": 2260 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029783.2:c.1891C>T" ], "proteinEffect": { "hgvs": "XP_016885272.1:p.Arg631Ter", "hgvsWellDefined": "XP_016885272.1:p.Arg631_Ser1374delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579277" }, { "coordinates": [ { "allele": "T", "end": 1815, "referenceAllele": "C", "start": 1814 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029784.1:c.1240C>T" ], "proteinEffect": { "hgvs": "XP_016885273.1:p.Arg414Ter", "hgvsWellDefined": "XP_016885273.1:p.Arg414_Ser1193delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579278" }, { "coordinates": [ { "allele": "T", "end": 1788, "referenceAllele": "C", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.982C>T" ], "proteinEffect": { "hgvs": "XP_016885274.1:p.Arg328Ter", "hgvsWellDefined": "XP_016885274.1:p.Arg328_Ser1071delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "T", "end": 2396, "referenceAllele": "C", "start": 2395 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.2026C>T" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Arg676Ter", "hgvsWellDefined": "XP_024308206.1:p.Arg676_Ser1455delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "T", "end": 2136, "referenceAllele": "C", "start": 2135 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.1603C>T" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Arg535Ter", "hgvsWellDefined": "XP_024308207.1:p.Arg535_Ser1314delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "T", "end": 2498, "referenceAllele": "C", "start": 2497 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.2498C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "@id": "http://reg.genome.network/allele/PA913201575", "coordinates": [ { "allele": "T", "end": 2492, "referenceAllele": "C", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.2128C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Arg710Ter", "hgvsWellDefined": "NP_001278344.1:p.Arg710_Ser1453delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.2128C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.2128C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Arg710Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Arg710Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826796912", "coordinates": [ { "allele": "T", "end": 2357, "referenceAllele": "C", "start": 2356 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.1993C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Arg665Ter", "hgvsWellDefined": "NP_001278345.1:p.Arg665_Ser1408delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "@id": "http://reg.genome.network/allele/PA2826797473", "coordinates": [ { "allele": "T", "end": 2201, "referenceAllele": "C", "start": 2200 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.1837C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Arg613Ter", "hgvsWellDefined": "NP_001278346.1:p.Arg613_Ser1356delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "@id": "http://reg.genome.network/allele/PA2826798017", "coordinates": [ { "allele": "T", "end": 2099, "referenceAllele": "C", "start": 2098 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.1735C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Arg579Ter", "hgvsWellDefined": "NP_001278347.1:p.Arg579_Ser1322delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "@id": "http://reg.genome.network/allele/PA2826798453", "coordinates": [ { "allele": "T", "end": 2080, "referenceAllele": "C", "start": 2079 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.1084C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Arg362Ter", "hgvsWellDefined": "NP_001278350.1:p.Arg362_Ser1105delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "@id": "http://reg.genome.network/allele/PA2829966897", "coordinates": [ { "allele": "T", "end": 2336, "referenceAllele": "C", "start": 2335 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.1972C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Arg658Ter", "hgvsWellDefined": "NP_066963.2:p.Arg658_Ser1401delinsProLeuSerSerThrGlyProSerGlnHisLeuGlnAlaAlaGlySerGlyIleGlnAsnGlnAsnGlyHisProThrLeuProSerAsnSerValThrGlnGlyAlaAlaLeuAsnHisLeuSerSerHisThrAlaThrSerGlyGlyGlnGlnGlyIleThrLeuThrLysGluSerLysProSerGlyAsnIleLeuThrValProGluThrSerArgHisThrGlyGluThrProAsnSerThrAlaSerValGluGlyLeuProAsnHisValHisGlnMetThrAlaAspAlaValCysSerProSerHisGlyAspSerLysSerProGlyLeuLeuSerSerAspAsnProGlnLeuSerAlaLeuLeuMetGlyLysAlaAsnAsnAsnValGlyThrGlyThrCysAspLysValAsnAsnIleHisProAlaValHisThrLysThrAspAsnSerValAlaSerSerProSerSerAlaIleSerThrAlaThrProSerProLysSerThrGluGlnThrThrThrAsnSerValThrSerLeuAsnSerProHisSerGlyLeuHisThrIleAsnGlyGluGlyMetGluGluSerGlnSerProMetLysThrAspLeuLeuLeuValAsnHisLysProSerProGlnIleIleProSerMetSerValSerIleTyrProSerSerAlaGluValLeuLysAlaCysArgAsnLeuGlyLysAsnGlyLeuSerAsnSerSerIleLeuLeuAspLysCysProProProArgProProSerSerProTyrProProLeuProLysAspLysLeuAsnProProThrProSerIleTyrLeuGluAsnLysArgAspAlaPhePheProProLeuHisGlnPheCysThrAsnProAsnAsnProValThrValIleArgGlyLeuAlaGlyAlaLeuLysLeuAspLeuGlyLeuPheSerThrLysThrLeuValGluAlaAsnAsnGluHisMetValGluValArgThrGlnLeuLeuGlnProAlaAspGluAsnTrpAspProThrGlyThrLysLysIleTrpHisCysGluSerAsnArgSerHisThrThrIleAlaLysTyrAlaGlnTyrGlnAlaSerSerPheGlnGluSerLeuArgGluGluAsnGluLysArgSerHisHisLysAspHisSerAspSerGluSerThrSerSerAspAsnSerGlyArgArgArgLysGlyProPheLysThrIleLysPheGlyThrAsnIleAspLeuSerAspAspLysLysTrpLysLeuGlnLeuHisGluLeuThrLysLeuProAlaPheValArgValValSerAlaGlyAsnLeuLeuSerHisValGlyHisThrIleLeuGlyMetAsnThrValGlnLeuTyrMetLysValProGlySerArgThrProGlyHisGlnGluAsnAsnAsnPheCysSerValAsnIleAsnIleGlyProGlyAspCysGluTrpPheValValProGluGlyTyrTrpGlyValLeuAsnAspPheCysGluLysAsnAsnLeuAsnPheLeuMetGlySerTrpTrpProAsnLeuGluAspLeuTyrGluAlaAsnValProValTyrArgPheIleGlnArgProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "T", "end": 2255, "referenceAllele": "C", "start": 2254 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.2255C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }