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"XM_011543958.1:c.3793C>T" ], "proteinEffect": { "hgvs": "XP_011542260.1:p.Arg1265Ter", "hgvsWellDefined": "XP_011542260.1:p.Arg1265_Ser1489delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110871" }, { "coordinates": [ { "allele": "T", "end": 4125, "referenceAllele": "C", "start": 4124 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543959.1:c.3748C>T" ], "proteinEffect": { "hgvs": "XP_011542261.1:p.Arg1250Ter", "hgvsWellDefined": "XP_011542261.1:p.Arg1250_Ser1474delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110872" }, { "coordinates": [ { "allele": "T", "end": 4227, "referenceAllele": "C", "start": 4226 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543960.1:c.3850C>T" ], "proteinEffect": { "hgvs": "XP_011542262.1:p.Arg1284Ter", "hgvsWellDefined": "XP_011542262.1:p.Arg1284_Ser1472delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110873" }, { "coordinates": [ { "allele": "T", "end": 4092, "referenceAllele": "C", "start": 4091 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543961.1:c.3715C>T" ], "proteinEffect": { "hgvs": "XP_011542263.1:p.Arg1239Ter", "hgvsWellDefined": "XP_011542263.1:p.Arg1239_Ser1463delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110874" }, { "coordinates": [ { "allele": "T", "end": 4071, "referenceAllele": "C", "start": 4070 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543962.1:c.3694C>T" ], "proteinEffect": { "hgvs": "XP_011542264.1:p.Arg1232Ter", "hgvsWellDefined": "XP_011542264.1:p.Arg1232_Ser1456delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110875" }, { "coordinates": [ { "allele": "T", "end": 4035, "referenceAllele": "C", "start": 4034 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543963.1:c.3658C>T" ], "proteinEffect": { "hgvs": "XP_011542265.1:p.Arg1220Ter", "hgvsWellDefined": "XP_011542265.1:p.Arg1220_Ser1444delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110876" }, { "coordinates": [ { "allele": "T", "end": 4014, "referenceAllele": "C", "start": 4013 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.1:c.3637C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg1213Ter", "hgvsWellDefined": "XP_011542266.1:p.Arg1213_Ser1437delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110877" }, { 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"XP_011542267.1:p.Arg1205_Ser1429delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110878" }, { "coordinates": [ { "allele": "T", "end": 3969, "referenceAllele": "C", "start": 3968 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543966.1:c.3592C>T" ], "proteinEffect": { "hgvs": "XP_011542268.1:p.Arg1198Ter", "hgvsWellDefined": "XP_011542268.1:p.Arg1198_Ser1422delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110879" }, { "coordinates": [ { "allele": "T", "end": 4071, "referenceAllele": "C", "start": 4070 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543967.1:c.3694C>T" ], "proteinEffect": { "hgvs": "XP_011542269.1:p.Arg1232Ter", "hgvsWellDefined": "XP_011542269.1:p.Arg1232_Ser1420delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110880" }, { "coordinates": [ { "allele": "T", "end": 3936, "referenceAllele": "C", "start": 3935 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543968.1:c.3559C>T" ], "proteinEffect": { "hgvs": "XP_011542270.1:p.Arg1187Ter", "hgvsWellDefined": "XP_011542270.1:p.Arg1187_Ser1411delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110881" }, { "coordinates": [ { "allele": "T", "end": 3933, "referenceAllele": "C", "start": 3932 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543969.1:c.3556C>T" ], "proteinEffect": { "hgvs": "XP_011542271.1:p.Arg1186Ter", "hgvsWellDefined": "XP_011542271.1:p.Arg1186_Ser1410delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110882" }, { "coordinates": [ { "allele": "T", "end": 3912, "referenceAllele": "C", "start": 3911 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543970.1:c.3535C>T" ], "proteinEffect": { "hgvs": "XP_011542272.1:p.Arg1179Ter", "hgvsWellDefined": "XP_011542272.1:p.Arg1179_Ser1403delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110883" }, { "coordinates": [ { "allele": "T", "end": 3990, "referenceAllele": "C", "start": 3989 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543971.1:c.3613C>T" ], "proteinEffect": { "hgvs": "XP_011542273.1:p.Arg1205Ter", "hgvsWellDefined": "XP_011542273.1:p.Arg1205_Ser1393delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS110884" }, { "coordinates": [ { "allele": "T", "end": 3879, "referenceAllele": "C", "start": 3878 } ], "gene": 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"http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543964.3:c.3637C>T" ], "proteinEffect": { "hgvs": "XP_011542266.1:p.Arg1213Ter", "hgvsWellDefined": "XP_011542266.1:p.Arg1213_Ser1437delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555446" }, { 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"http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_011543972.3:c.3502C>T" ], "proteinEffect": { "hgvs": "XP_011542274.1:p.Arg1168Ter", "hgvsWellDefined": "XP_011542274.1:p.Arg1168_Ser1392delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS555449" }, { 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"http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_017029785.1:c.2647C>T" ], "proteinEffect": { "hgvs": "XP_016885274.1:p.Arg883Ter", "hgvsWellDefined": "XP_016885274.1:p.Arg883_Ser1071delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS579279" }, { "coordinates": [ { "allele": "T", "end": 4061, "referenceAllele": "C", "start": 4060 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452438.1:c.3691C>T" ], "proteinEffect": { "hgvs": "XP_024308206.1:p.Arg1231Ter", "hgvsWellDefined": "XP_024308206.1:p.Arg1231_Ser1455delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585931" }, { "coordinates": [ { "allele": "T", "end": 3801, "referenceAllele": "C", "start": 3800 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XM_024452439.1:c.3268C>T" ], "proteinEffect": { "hgvs": "XP_024308207.1:p.Arg1090Ter", "hgvsWellDefined": "XP_024308207.1:p.Arg1090_Ser1314delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysIlePheSerLeuSerProAsnPheArgAlaGluLysCysLeuArgAspHisLeuValGlnProLeuArgSerAsnGlyGluProGluProLeuArgPheThrGlyGluTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585932" }, { "coordinates": [ { "allele": "T", "end": 4163, "referenceAllele": "C", "start": 4162 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "XR_002958804.1:n.4163C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS604928" }, { "@id": "http://reg.genome.network/allele/PA2826796593", "coordinates": [ { "allele": "T", "end": 4157, "referenceAllele": "C", "start": 4156 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291415.2:c.3793C>T" ], "proteinEffect": { "hgvs": "NP_001278344.1:p.Arg1265Ter", "hgvsWellDefined": "NP_001278344.1:p.Arg1265_Ser1453delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682802", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000611820.5:c.3793C>T" }, "RefSeq": { "hgvs": "NM_001291415.2:c.3793C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000483595.2:p.Arg1265Ter" }, "RefSeq": { "hgvs": "NP_001278344.1:p.Arg1265Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826797135", "coordinates": [ { "allele": "T", "end": 4022, "referenceAllele": "C", "start": 4021 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291416.2:c.3658C>T" ], "proteinEffect": { "hgvs": "NP_001278345.1:p.Arg1220Ter", "hgvsWellDefined": "NP_001278345.1:p.Arg1220_Ser1408delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716691" }, { "@id": "http://reg.genome.network/allele/PA2826797696", "coordinates": [ { "allele": "T", "end": 3866, "referenceAllele": "C", "start": 3865 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291417.2:c.3502C>T" ], "proteinEffect": { "hgvs": "NP_001278346.1:p.Arg1168Ter", "hgvsWellDefined": "NP_001278346.1:p.Arg1168_Ser1356delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716692" }, { "@id": "http://reg.genome.network/allele/PA2826798238", "coordinates": [ { "allele": "T", "end": 3764, "referenceAllele": "C", "start": 3763 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291418.2:c.3400C>T" ], "proteinEffect": { "hgvs": "NP_001278347.1:p.Arg1134Ter", "hgvsWellDefined": "NP_001278347.1:p.Arg1134_Ser1322delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716693" }, { "@id": "http://reg.genome.network/allele/PA2573069627", "coordinates": [ { "allele": "T", "end": 3745, "referenceAllele": "C", "start": 3744 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_001291421.2:c.2749C>T" ], "proteinEffect": { "hgvs": "NP_001278350.1:p.Arg917Ter", "hgvsWellDefined": "NP_001278350.1:p.Arg917_Ser1105delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716696" }, { "@id": "http://reg.genome.network/allele/PA2829967268", "coordinates": [ { "allele": "T", "end": 4001, "referenceAllele": "C", "start": 4000 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NM_021140.4:c.3637C>T" ], "proteinEffect": { "hgvs": "NP_066963.2:p.Arg1213Ter", "hgvsWellDefined": "NP_066963.2:p.Arg1213_Ser1401delinsProGlyAspLeuValTrpIleAsnAlaGlyThrValHisTrpValGlnAlaIleGlyTrpCysAsnAsnIleAlaTrpAsnValGlyProLeuThrAlaCysGlnTyrLysLeuAlaValGluArgTyrGluTrpAsnLysLeuGlnSerValLysSerIleValProMetValHisLeuSerTrpAsnMetAlaArgAsnIleLysValSerAspProLysLeuPheGluMetIleLysTyrCysLeuLeuArgThrLeuLysGlnCysGlnThrLeuArgGluAlaLeuIleAlaAlaGlyLysGluIleIleTrpHisGlyArgThrLysGluGluProAlaHisTyrCysSerIleCysGluValGluValPheAspLeuLeuPheValThrAsnGluSerAsnSerArgLysThrTyrIleValHisCysGlnAspCysAlaArgLysThrSerGlyAsnLeuGluAsnPheValValLeuGluGlnTyrLysMetGluAspLeuMetGlnValTyrAspGlnPheThrLeuAlaProProLeuProSerAlaSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS728509" }, { "coordinates": [ { "allele": "T", "end": 3920, "referenceAllele": "C", "start": 3919 } ], "gene": "http://reg.genome.network/gene/GN012637", "geneNCBI_id": 7403, "geneSymbol": "KDM6A", "hgvs": [ "NR_111960.2:n.3920C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730732" } ], "type": "nucleotide" }