{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8618938", "communityStandardTitle": [ "NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4067152", "active": true, "id": "COSM4067152" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410051[alleleid]", "alleleId": 410051, "preferredName": "NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/421289", "RCV": [ "RCV000486096", "RCV000623046", "RCV002248704", "RCV000678306" ], "variationId": 421289 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-44248642-G-A", "id": "17-44248642-G-A", "variant": "17:44248642 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.44248642G>A?assembly=hg19", "id": "chr17:g.44248642G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.46171276G>A?assembly=hg38", "id": "chr17:g.46171276G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/149830411", "rs": 149830411 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-44248642-G-A?dataset=gnomad_r2_1", "id": "17-44248642-G-A", "variant": "17:44248642 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-46171276-G-A?dataset=gnomad_r3", "id": "17-46171276-G-A", "variant": "17:46171276 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-46171276-G-A?dataset=gnomad_r4", "id": "17-46171276-G-A", "variant": "17:46171276 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 46171276, "referenceAllele": "G", "start": 46171275 } ], "hgvs": [ "NC_000017.11:g.46171276G>A", "CM000679.2:g.46171276G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 44248642, "referenceAllele": "G", "start": 44248641 } ], "hgvs": [ "NC_000017.10:g.44248642G>A", "CM000679.1:g.44248642G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 41604419, "referenceAllele": "G", "start": 41604418 } ], "hgvs": [ "NC_000017.9:g.41604419G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "T", "end": 59099, "referenceAllele": "C", "start": 59098 } ], "hgvs": [ "NG_032784.1:g.59099C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005220" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000432791.7:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000387393.3:p.Arg290Ter", "hgvsWellDefined": "ENSP00000387393.3:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755424", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.868C>T" }, "RefSeq": { "hgvs": "NM_015443.4:c.868C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Arg290Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Arg290Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000571698.2:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000459330.2:p.Arg290Ter", "hgvsWellDefined": "ENSP00000459330.2:p.Arg290Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS760665" }, { "coordinates": [ { "allele": "T", "end": 963, "referenceAllele": "C", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.6:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Arg290Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760699" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "C", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.6:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000461812.2:p.Arg290Ter", "hgvsWellDefined": "ENSP00000461812.2:p.Arg290_Arg1104delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760743" }, { "coordinates": [ { "allele": "T", "end": 1122, "referenceAllele": "C", "start": 1121 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574655.6:n.1122C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS760745" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.6:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Arg290Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Arg290_Arg1041delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS760759" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000638269.1:n.1112C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764438" }, { "coordinates": [ { "allele": "T", "end": 1535, "referenceAllele": "C", "start": 1534 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000638275.1:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000492576.1:p.Arg290Ter", "hgvsWellDefined": "ENSP00000492576.1:p.Arg290_Arg1041delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS292241" }, { "coordinates": [ { "allele": "T", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000572904.5:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000461484.1:p.Arg290Ter", "hgvsWellDefined": "ENSP00000461484.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383091" }, { "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000574590.5:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000461812.1:p.Arg290Ter", "hgvsWellDefined": "ENSP00000461812.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS383750" }, { "coordinates": [ { "allele": "T", "end": 902, "referenceAllele": "C", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "ENST00000575318.5:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000461299.1:p.Arg290Ter", "hgvsWellDefined": "ENSP00000461299.1:p.Arg290_Arg1041delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS384072" }, { "@id": "http://reg.genome.network/allele/PA2826185048", "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.1:c.868C>T" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Arg290Ter", "hgvsWellDefined": "NP_001180394.1:p.Arg290_Arg1104delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016402" }, { "@id": "http://reg.genome.network/allele/PA645506752", "coordinates": [ { "allele": "T", "end": 1339, "referenceAllele": "C", "start": 1338 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.1:c.868C>T" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Arg290Ter", "hgvsWellDefined": "NP_001180395.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016403" }, { "@id": "http://reg.genome.network/allele/PA915983756", "coordinates": [ { "allele": "T", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.3:c.868C>T" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Arg290Ter", "hgvsWellDefined": "NP_056258.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034023" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.1:c.868C>T" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Arg290Ter", "hgvsWellDefined": "XP_006721886.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074271" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.2:c.868C>T" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Arg290Ter", "hgvsWellDefined": "XP_006721887.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074272" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.1:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522930.1:p.Arg290_Arg1104delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091749" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.1:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522931.1:p.Arg290_Arg1071delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091750" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.1:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522932.1:p.Arg290_Arg1042delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091751" }, { "coordinates": [ { "allele": "T", "end": 1316, "referenceAllele": "C", "start": 1315 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.1:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522933.1:p.Arg290_Arg1041delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS091752" }, { "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721823.2:c.868C>T" ], "proteinEffect": { "hgvs": "XP_006721886.1:p.Arg290Ter", "hgvsWellDefined": "XP_006721886.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540390" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_006721824.4:c.868C>T" ], "proteinEffect": { "hgvs": "XP_006721887.1:p.Arg290Ter", "hgvsWellDefined": "XP_006721887.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540391" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524628.3:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522930.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522930.1:p.Arg290_Arg1104delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547535" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524629.3:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522931.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522931.1:p.Arg290_Arg1071delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547536" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524630.3:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522932.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522932.1:p.Arg290_Arg1042delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547537" }, { "coordinates": [ { "allele": "T", "end": 1434, "referenceAllele": "C", "start": 1433 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_011524631.3:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011522933.1:p.Arg290Ter", "hgvsWellDefined": "XP_011522933.1:p.Arg290_Arg1041delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547538" }, { "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024488.2:c.868C>T" ], "proteinEffect": { "hgvs": "XP_016879977.1:p.Arg290Ter", "hgvsWellDefined": "XP_016879977.1:p.Arg290_Arg1041delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaMetLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575048" }, { "coordinates": [ { "allele": "T", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "XM_017024489.1:c.868C>T" ], "proteinEffect": { "hgvs": "XP_016879978.1:p.Arg290Ter", "hgvsWellDefined": "XP_016879978.1:p.Arg290_Ser878delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerValSerThrCysValGlyLeuAlaGlyHisProLeuCysArgSerGlnLeuThrGlnValAlaProGluAspSerValArgValGlyTyrLysAlaGlnGlyIleTyrArgIleSerAlaHisHisAspIleCysMetTyrValCysThrIlePheLysSerLysSerTrpTyrLeuThrPheCysCysPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS575049" }, { "@id": "http://reg.genome.network/allele/PA645506752", "coordinates": [ { "allele": "T", "end": 1321, "referenceAllele": "C", "start": 1320 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193466.2:c.868C>T" ], "proteinEffect": { "hgvs": "NP_001180395.1:p.Arg290Ter", "hgvsWellDefined": "NP_001180395.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679224" }, { "@id": "http://reg.genome.network/allele/PA915983756", "coordinates": [ { "allele": "T", "end": 1564, "referenceAllele": "C", "start": 1563 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_015443.4:c.868C>T" ], "proteinEffect": { "hgvs": "NP_056258.1:p.Arg290Ter", "hgvsWellDefined": "NP_056258.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697543", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000432791.7:c.868C>T" }, "RefSeq": { "hgvs": "NM_015443.4:c.868C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000387393.3:p.Arg290Ter" }, "RefSeq": { "hgvs": "NP_056258.1:p.Arg290Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826185048", "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001193465.2:c.868C>T" ], "proteinEffect": { "hgvs": "NP_001180394.1:p.Arg290Ter", "hgvsWellDefined": "NP_001180394.1:p.Arg290_Arg1104delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713746" }, { "@id": "http://reg.genome.network/allele/PA2828814855", "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN024565", "geneNCBI_id": 284058, "geneSymbol": "KANSL1", "hgvs": [ "NM_001379198.1:c.868C>T" ], "proteinEffect": { "hgvs": "NP_001366127.1:p.Arg290Ter", "hgvsWellDefined": "NP_001366127.1:p.Arg290_Arg1105delinsGlnAlaAspIleGluSerArgAlaArgArgLeuGlnLysArgLeuGlnValValGlnAlaLysGlnValGluArgHisIleGlnHisGlnLeuGlyGlyPheLeuGluLysThrLeuSerLysLeuProAsnLeuGluSerLeuArgProArgSerGlnLeuMetLeuThrArgLysAlaGluAlaAlaLeuArgLysAlaAlaSerGluThrThrThrSerGluGlyLeuSerAsnPheLeuLysSerAsnSerIleSerGluGluLeuGluArgPheThrAlaSerGlyIleAlaAsnLeuArgCysSerGluGlnAlaPheAspSerAspValThrAspSerSerSerGlyGlyGluSerAspIleGluGluGluGluLeuThrArgAlaAspProGluGlnArgHisValProLeuArgArgArgSerGluTrpLysTrpAlaAlaAspArgAlaAlaIleValSerArgTrpAsnTrpLeuGlnAlaHisValSerAspLeuGluTyrArgIleArgGlnGlnThrAspIleTyrLysGlnIleArgAlaAsnLysGlyLeuIleValLeuGlyGluValProProProGluHisThrThrAspLeuPheLeuProLeuSerSerGluValLysThrAspHisGlyThrAspLysLeuIleGluSerValSerGlnProLeuGluAsnHisGlyAlaProIleIleGlyHisIleSerGluSerLeuSerThrLysSerCysGlyAlaLeuArgProValAsnGlyValIleAsnThrLeuGlnProValLeuAlaAspHisIleProGlyAspSerSerAspAlaGluGluGlnLeuHisLysLysGlnArgLeuAsnLeuValSerSerSerSerAspGlyThrCysValAlaAlaArgThrArgProValLeuSerCysLysLysArgArgLeuValArgProAsnSerIleValProLeuSerLysLysValHisArgAsnSerThrIleArgProGlyCysAspValAsnProSerCysAlaLeuCysGlySerGlySerIleAsnThrMetProProGluIleHisTyrGluAlaProLeuLeuGluArgLeuSerGlnLeuAspSerCysValHisProValLeuAlaPheProAspAspValProThrSerLeuHisPheGlnSerMetLeuLysSerGlnTrpGlnAsnLysProPheAspLysIleLysProProLysLysLeuSerLeuLysHisArgAlaProMetProGlySerLeuProAspSerAlaArgLysAspArgHisLysLeuValSerSerPheLeuThrThrAlaLysLeuSerHisHisGlnThrArgProAspArgThrHisArgGlnHisLeuAspAspValGlyAlaValProMetValGluArgValThrAlaProLysAlaGluArgLeuLeuAsnProProProProValHisAspProAsnHisSerLysMetArgLeuArgAspHisSerSerGluArgSerGluValLeuLysHisHisThrAspMetSerSerSerSerTyrLeuAlaAlaThrHisHisProProHisSerProLeuValArgGlnLeuSerThrSerSerAspSerProAlaProAlaSerSerSerSerGlnValThrAlaSerThrSerGlnGlnProValArgArgArgArgGlyGluSerSerPheAspIleAsnAsnIleValIleProMetSerValAlaAlaThrThrArgValGluLysLeuGlnTyrLysGluIleLeuThrProSerTrpArgGluValAspLeuGlnSerLeuLysGlySerProAspGluGluAsnGluGluIleGluAspLeuSerAspAlaAlaPheAlaAlaLeuHisAlaLysCysGluGluMetGluArgAlaArgTrpLeuTrpThrThrSerValProProGlnArgArgGlySerArgSerTyrArgSerSerAspGlyArgThrThrProGlnLeuGlySerAlaAsnProSerThrProGlnProAlaSerProAspValSerSerSerHisSerLeuSerGluTyrSerHisGlyGlnSerProArgSerProIleSerProGluLeuHisSerAlaProLeuThrProValAlaArgAspThrProArgHisLeuAlaSerGluAspThrArgCysSerThrProGluLeuGlyLeuAspGluGlnSerValGlnProTrpGluArgArgThrPheProLeuAlaHisSerProGlnAlaGluCysGluAspGlnLeuAspAlaGlnGluArgAlaAlaArgCysThrArgArgThrSerGlySerLysThrGlyArgGluThrGluAlaAlaProThrSerProProIleValProLeuLysSerArgHisLeuValAlaAlaAlaThrAlaGlnArgProThrHisArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721930" } ], "type": "nucleotide" }