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"DCLRE1C", "hgvs": [ "ENST00000378278.7:c.816T>A" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Cys272Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Cys272_Thr692delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752059", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.816T>A" }, "RefSeq": { "hgvs": "NM_001033855.3:c.816T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Cys272Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Cys272Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 723, "referenceAllele": "T", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000357717.6:c.471T>A" ], "proteinEffect": { "hgvs": "ENSP00000350349.2:p.Cys157Ter", "hgvsWellDefined": "ENSP00000350349.2:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264206" }, { "coordinates": [ { "allele": "A", "end": 845, "referenceAllele": "T", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378246.6:c.471T>A" ], "proteinEffect": { "hgvs": "ENSP00000367492.2:p.Cys157Ter", "hgvsWellDefined": "ENSP00000367492.2:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271955" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "T", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378249.5:c.471T>A" ], "proteinEffect": { "hgvs": "ENSP00000367496.1:p.Cys157Ter", "hgvsWellDefined": "ENSP00000367496.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271957" }, { "coordinates": [ { "allele": "A", "end": 985, "referenceAllele": "T", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378254.5:c.456T>A" ], "proteinEffect": { "hgvs": "ENSP00000367502.1:p.Cys152Ter", "hgvsWellDefined": "ENSP00000367502.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271959" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "T", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378255.5:c.456T>A" ], "proteinEffect": { "hgvs": "ENSP00000367503.1:p.Cys152Ter", "hgvsWellDefined": "ENSP00000367503.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271960" }, { "coordinates": [ { "allele": "A", "end": 963, "referenceAllele": "T", "start": 962 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378258.5:c.456T>A" ], "proteinEffect": { "hgvs": "ENSP00000367506.1:p.Cys152Ter", "hgvsWellDefined": "ENSP00000367506.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271962" }, { "coordinates": [ { "allele": "A", "end": 854, "referenceAllele": "T", "start": 853 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378278.6:c.816T>A" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Cys272Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Cys272_Thr692delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271968" }, { "coordinates": [ { "allele": "A", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378289.8:c.816T>A" ], "proteinEffect": { "hgvs": "ENSP00000367538.4:p.Cys272Ter", "hgvsWellDefined": "ENSP00000367538.4:p.Cys272_Ile434delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlySerHisSerValThrGlnAlaArgMetArgTrpCysHisHisAspSerLeuTyrProLeuThrProGlyIleLysArgSerSerCysLeuSerLeuLeuThrSerTrpIleThrGlyAlaTyrArgHisAlaGlnLeuMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271974" }, { "coordinates": [ { "allele": "A", "end": 1261, "referenceAllele": "T", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000396817.6:c.456T>A" ], "proteinEffect": { "hgvs": "ENSP00000380030.2:p.Cys152Ter", "hgvsWellDefined": "ENSP00000380030.2:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277448" }, { "@id": "http://reg.genome.network/allele/PA2825372848", "coordinates": [ { "allele": "A", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033855.2:c.816T>A" ], "proteinEffect": { "hgvs": "NP_001029027.1:p.Cys272Ter", "hgvsWellDefined": "NP_001029027.1:p.Cys272_Thr692delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009167" }, { "@id": "http://reg.genome.network/allele/PA2825373264", "coordinates": [ { "allele": "A", "end": 1323, "referenceAllele": "T", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.2:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Cys152Ter", "hgvsWellDefined": "NP_001029029.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009168" }, { "@id": "http://reg.genome.network/allele/PA2825373747", "coordinates": [ { "allele": "A", "end": 1645, "referenceAllele": "T", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.2:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Cys152Ter", "hgvsWellDefined": "NP_001029030.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009169" }, { "@id": "http://reg.genome.network/allele/PA2826755781", "coordinates": [ { "allele": "A", "end": 1097, "referenceAllele": "T", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.1:c.471T>A" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Cys157Ter", "hgvsWellDefined": "NP_001276005.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023772" }, { "@id": "http://reg.genome.network/allele/PA2826756265", "coordinates": [ { "allele": "A", "end": 1369, "referenceAllele": "T", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.1:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Cys152Ter", "hgvsWellDefined": "NP_001276006.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023773" }, { "@id": "http://reg.genome.network/allele/PA2826756749", "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "T", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.1:c.471T>A" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Cys157Ter", "hgvsWellDefined": "NP_001276007.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023774" }, { "@id": "http://reg.genome.network/allele/PA2826757233", "coordinates": [ { "allele": "A", "end": 1691, "referenceAllele": "T", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.1:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Cys152Ter", "hgvsWellDefined": "NP_001276008.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023775" }, { "@id": "http://reg.genome.network/allele/PA2830003497", "coordinates": [ { "allele": "A", "end": 1182, "referenceAllele": "T", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.3:c.471T>A" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Cys157Ter", "hgvsWellDefined": "NP_071932.2:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037349" }, { "coordinates": [ { "allele": "A", "end": 1450, "referenceAllele": "T", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.1:n.1450T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054576" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "T", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_006717491.2:c.471T>A" ], "proteinEffect": { "hgvs": "XP_006717554.1:p.Cys157Ter", "hgvsWellDefined": "XP_006717554.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072189" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519616.1:c.471T>A" ], "proteinEffect": { "hgvs": "XP_011517918.1:p.Cys157Ter", "hgvsWellDefined": "XP_011517918.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086788" }, { "coordinates": [ { "allele": "A", "end": 1047, "referenceAllele": "T", "start": 1046 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519617.1:c.471T>A" ], "proteinEffect": { "hgvs": "XP_011517919.1:p.Cys157Ter", "hgvsWellDefined": "XP_011517919.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086789" }, { "coordinates": [ { "allele": "A", "end": 1174, "referenceAllele": "T", "start": 1173 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519618.1:c.471T>A" ], "proteinEffect": { "hgvs": "XP_011517920.1:p.Cys157Ter", "hgvsWellDefined": "XP_011517920.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086790" }, { "coordinates": [ { "allele": "A", "end": 1074, "referenceAllele": "T", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519619.1:c.456T>A" ], "proteinEffect": { "hgvs": "XP_011517921.1:p.Cys152Ter", "hgvsWellDefined": "XP_011517921.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086791" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "T", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519620.1:c.816T>A" ], "proteinEffect": { "hgvs": "XP_011517922.1:p.Cys272Ter", "hgvsWellDefined": "XP_011517922.1:p.Cys272_Glu388delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086792" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "T", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519621.1:c.816T>A" ], "proteinEffect": { "hgvs": "XP_011517923.1:p.Cys272Ter", "hgvsWellDefined": "XP_011517923.1:p.Cys272_Ser310delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086793" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "T", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_242702.2:n.913T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116341" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "T", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930514.1:n.913T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS126642" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "T", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.1:n.913T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS126643" }, { "@id": "http://reg.genome.network/allele/PA2573202516", "coordinates": [ { "allele": "A", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.1:c.816T>A" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Cys272Ter", "hgvsWellDefined": "NP_001337894.1:p.Cys272_Leu614delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519799" }, { "@id": "http://reg.genome.network/allele/PA2827581163", "coordinates": [ { "allele": "A", "end": 1130, "referenceAllele": "T", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.1:c.471T>A" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Cys157Ter", "hgvsWellDefined": "NP_001337895.1:p.Cys157_Leu499delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519800" }, { "@id": "http://reg.genome.network/allele/PA2827581550", "coordinates": [ { "allele": "A", "end": 1323, "referenceAllele": "T", "start": 1322 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.1:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Cys152Ter", "hgvsWellDefined": "NP_001337896.1:p.Cys152_Leu494delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519801" }, { "coordinates": [ { "allele": "A", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146960.1:n.1238T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530513" }, { "coordinates": [ { "allele": "A", "end": 1267, "referenceAllele": "T", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.1:n.1267T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530514" }, { "coordinates": [ { "allele": "A", "end": 1238, "referenceAllele": "T", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146962.1:n.1238T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530515" }, { "coordinates": [ { "allele": "A", "end": 928, "referenceAllele": "T", "start": 927 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_006717491.4:c.471T>A" ], "proteinEffect": { "hgvs": "XP_006717554.1:p.Cys157Ter", "hgvsWellDefined": "XP_006717554.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539425" }, { "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "T", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519620.3:c.816T>A" ], "proteinEffect": { "hgvs": "XP_011517922.1:p.Cys272Ter", "hgvsWellDefined": "XP_011517922.1:p.Cys272_Glu388delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545430" }, { "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "T", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519621.2:c.816T>A" ], "proteinEffect": { "hgvs": "XP_011517923.1:p.Cys272Ter", "hgvsWellDefined": "XP_011517923.1:p.Cys272_Ser310delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545431" }, { "coordinates": [ { "allele": "A", "end": 940, "referenceAllele": "T", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_017016557.1:c.471T>A" ], "proteinEffect": { "hgvs": "XP_016872046.1:p.Cys157Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS568972" }, { "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "T", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_017016558.1:c.456T>A" ], "proteinEffect": { "hgvs": "XP_016872047.1:p.Cys152Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS568973" }, { "coordinates": [ { "allele": "A", "end": 817, "referenceAllele": "T", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448134.1:c.456T>A" ], "proteinEffect": { "hgvs": "XP_024303902.1:p.Cys152Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS581714" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448135.1:c.471T>A" ], "proteinEffect": { "hgvs": "XP_024303903.1:p.Cys157Ter", "hgvsWellDefined": "XP_024303903.1:p.Cys157_Leu499delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581715" }, { "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "T", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747185.2:n.1160T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595377" }, { "coordinates": [ { "allele": "A", "end": 796, "referenceAllele": "T", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747187.1:n.796T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595378" }, { "coordinates": [ { "allele": "A", "end": 1160, "referenceAllele": "T", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.2:n.1160T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609552" }, { "@id": "http://reg.genome.network/allele/PA2825372848", "coordinates": [ { "allele": "A", "end": 902, "referenceAllele": "T", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033855.3:c.816T>A" ], "proteinEffect": { "hgvs": "NP_001029027.1:p.Cys272Ter", "hgvsWellDefined": "NP_001029027.1:p.Cys272_Thr692delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663073", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.816T>A" }, "RefSeq": { "hgvs": "NM_001033855.3:c.816T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Cys272Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Cys272Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825373264", "coordinates": [ { "allele": "A", "end": 987, "referenceAllele": "T", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.3:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Cys152Ter", "hgvsWellDefined": "NP_001029029.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675805" }, { "@id": "http://reg.genome.network/allele/PA2825373747", "coordinates": [ { "allele": "A", "end": 1309, "referenceAllele": "T", "start": 1308 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.3:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Cys152Ter", "hgvsWellDefined": "NP_001029030.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675806" }, { "@id": "http://reg.genome.network/allele/PA2826755781", "coordinates": [ { "allele": "A", "end": 761, "referenceAllele": "T", "start": 760 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.2:c.471T>A" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Cys157Ter", "hgvsWellDefined": "NP_001276005.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682606" }, { "@id": "http://reg.genome.network/allele/PA2826756265", "coordinates": [ { "allele": "A", "end": 1033, "referenceAllele": "T", "start": 1032 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.2:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Cys152Ter", "hgvsWellDefined": "NP_001276006.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682607" }, { "@id": "http://reg.genome.network/allele/PA2826756749", "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "T", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.2:c.471T>A" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Cys157Ter", "hgvsWellDefined": "NP_001276007.1:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682608" }, { "@id": "http://reg.genome.network/allele/PA2826757233", "coordinates": [ { "allele": "A", "end": 1355, "referenceAllele": "T", "start": 1354 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.2:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Cys152Ter", "hgvsWellDefined": "NP_001276008.1:p.Cys152_Thr572delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682609" }, { "@id": "http://reg.genome.network/allele/PA2573202516", "coordinates": [ { "allele": "A", "end": 902, "referenceAllele": "T", "start": 901 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.2:c.816T>A" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Cys272Ter", "hgvsWellDefined": "NP_001337894.1:p.Cys272_Leu614delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688596" }, { "@id": "http://reg.genome.network/allele/PA2827581163", "coordinates": [ { "allele": "A", "end": 794, "referenceAllele": "T", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.2:c.471T>A" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Cys157Ter", "hgvsWellDefined": "NP_001337895.1:p.Cys157_Leu499delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688597" }, { "@id": "http://reg.genome.network/allele/PA2827581550", "coordinates": [ { "allele": "A", "end": 987, "referenceAllele": "T", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.2:c.456T>A" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Cys152Ter", "hgvsWellDefined": "NP_001337896.1:p.Cys152_Leu494delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688598" }, { "@id": "http://reg.genome.network/allele/PA2830003497", "coordinates": [ { "allele": "A", "end": 846, "referenceAllele": "T", "start": 845 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.4:c.471T>A" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Cys157Ter", "hgvsWellDefined": "NP_071932.2:p.Cys157_Thr577delinsGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698549" }, { "coordinates": [ { "allele": "A", "end": 1114, "referenceAllele": "T", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.2:n.1114T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703126" }, { "coordinates": [ { "allele": "A", "end": 931, "referenceAllele": "T", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.2:n.931T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704456" } ], "type": "nucleotide" }