{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399980282", "communityStandardTitle": [ "NM_015443.4(KANSL1):c.902T>G (p.Leu301Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44248608A>C?assembly=hg19", "id": "chr17:g.44248608A>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.46171242A>C?assembly=hg38", "id": "chr17:g.46171242A>C" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 46171242, "referenceAllele": "A", "start": 46171241 } ], "hgvs": [ "NC_000017.11:g.46171242A>C", "CM000679.2:g.46171242A>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "C", "end": 44248608, "referenceAllele": "A", "start": 44248607 } ], "hgvs": [ "NC_000017.10:g.44248608A>C", "CM000679.1:g.44248608A>C" ], 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"ENSP00000461812.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383750" }, { "coordinates": [ { "allele": "G", "end": 936, "referenceAllele": "T", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.5:c.902T>G" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Leu301Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Leu301_Arg1041delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384072" }, { "@id": "http://reg.genome.network/allele/PA2826185059", "coordinates": [ { "allele": "G", "end": 1159, "referenceAllele": "T", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.1:c.902T>G" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Leu301Ter", "hgvsWellDefined": "NP_001180394.1:p.Leu301_Arg1104delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016402" }, { "@id": "http://reg.genome.network/allele/PA2826185869", "coordinates": [ { "allele": "G", "end": 1373, "referenceAllele": "T", "start": 1372 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.1:c.902T>G" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Leu301Ter", "hgvsWellDefined": "NP_001180395.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016403" }, { "@id": "http://reg.genome.network/allele/PA2499281174", "coordinates": [ { "allele": "G", "end": 1075, "referenceAllele": "T", "start": 1074 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.3:c.902T>G" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Leu301Ter", "hgvsWellDefined": "NP_056258.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034023" }, { "coordinates": [ { "allele": "G", "end": 1159, "referenceAllele": "T", "start": 1158 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.1:c.902T>G" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Leu301Ter", "hgvsWellDefined": "XP_006721886.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074271" }, { "coordinates": [ { "allele": "G", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.2:c.902T>G" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Leu301Ter", "hgvsWellDefined": "XP_006721887.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074272" }, { "coordinates": [ { "allele": "G", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.1:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522930.1:p.Leu301_Arg1104delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091749" }, { "coordinates": [ { "allele": "G", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.1:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522931.1:p.Leu301_Arg1071delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091750" }, { "coordinates": [ { "allele": "G", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.1:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522932.1:p.Leu301_Arg1042delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091751" }, { "coordinates": [ { "allele": "G", "end": 1350, "referenceAllele": "T", "start": 1349 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.1:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522933.1:p.Leu301_Arg1041delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091752" }, { "coordinates": [ { "allele": "G", "end": 1155, "referenceAllele": "T", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.2:c.902T>G" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Leu301Ter", "hgvsWellDefined": "XP_006721886.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540390" }, { "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.4:c.902T>G" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Leu301Ter", "hgvsWellDefined": "XP_006721887.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540391" }, { "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.3:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522930.1:p.Leu301_Arg1104delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547535" }, { "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.3:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522931.1:p.Leu301_Arg1071delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547536" }, { "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.3:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522932.1:p.Leu301_Arg1042delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547537" }, { "coordinates": [ { "allele": "G", "end": 1468, "referenceAllele": "T", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.3:c.902T>G" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Leu301Ter", "hgvsWellDefined": "XP_011522933.1:p.Leu301_Arg1041delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547538" }, { "coordinates": [ { "allele": "G", "end": 1155, "referenceAllele": "T", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024488.2:c.902T>G" ], "proteinEffect": { "hgvs": "XP_016879977.1:p.Leu301Ter", "hgvsWellDefined": "XP_016879977.1:p.Leu301_Arg1041delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575048" }, { "coordinates": [ { "allele": "G", "end": 1270, "referenceAllele": "T", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024489.1:c.902T>G" ], "proteinEffect": { "hgvs": "XP_016879978.1:p.Leu301Ter", "hgvsWellDefined": "XP_016879978.1:p.Leu301_Ser878delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerValSerThrCysValGlyLeuAlaGlyHisProLeuCysArgSerGlnLeuThrGlnValAlaProGluAspSerValArgValGlyTyrLysAlaGlnGlyIleTyrArgIleSerAlaHisHisAspIleCysMetTyrValCysThrIlePheLysSerLysSerTrpTyrLeuThrPheCysCysPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575049" }, { "@id": "http://reg.genome.network/allele/PA2826185869", "coordinates": [ { "allele": "G", "end": 1355, "referenceAllele": "T", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.2:c.902T>G" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Leu301Ter", "hgvsWellDefined": "NP_001180395.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679224" }, { "@id": "http://reg.genome.network/allele/PA2499281174", "coordinates": [ { "allele": "G", "end": 1598, "referenceAllele": "T", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.4:c.902T>G" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Leu301Ter", "hgvsWellDefined": "NP_056258.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.902T>G" }, "RefSeq": { "hgvs": "NM_015443.4:c.902T>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Leu301Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Leu301Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826185059", "coordinates": [ { "allele": "G", "end": 1152, "referenceAllele": "T", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.902T>G" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Leu301Ter", "hgvsWellDefined": "NP_001180394.1:p.Leu301_Arg1104delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713746" }, { "@id": "http://reg.genome.network/allele/PA2828814868", "coordinates": [ { "allele": "G", "end": 1152, "referenceAllele": "T", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.902T>G" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Leu301Ter", "hgvsWellDefined": "NP_001366127.1:p.Leu301_Arg1105delinsGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }