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"ENSP00000367527.2:p.Gln252_Thr692delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752059", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.754C>T" }, "RefSeq": { "hgvs": "NM_001033855.3:c.754C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Gln252Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Gln252Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 661, "referenceAllele": "C", "start": 660 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000357717.6:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000350349.2:p.Gln137Ter", "hgvsWellDefined": "ENSP00000350349.2:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264206" }, { "coordinates": [ { "allele": "T", "end": 783, "referenceAllele": "C", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378246.6:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000367492.2:p.Gln137Ter", "hgvsWellDefined": "ENSP00000367492.2:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271955" }, { "coordinates": [ { "allele": "T", "end": 684, "referenceAllele": "C", "start": 683 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378249.5:c.409C>T" ], "proteinEffect": { "hgvs": "ENSP00000367496.1:p.Gln137Ter", "hgvsWellDefined": "ENSP00000367496.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271957" }, { "coordinates": [ { "allele": "T", "end": 923, "referenceAllele": "C", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378254.5:c.394C>T" ], "proteinEffect": { "hgvs": "ENSP00000367502.1:p.Gln132Ter", "hgvsWellDefined": "ENSP00000367502.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271959" }, { "coordinates": [ { "allele": "T", "end": 1245, "referenceAllele": "C", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378255.5:c.394C>T" ], "proteinEffect": { "hgvs": "ENSP00000367503.1:p.Gln132Ter", "hgvsWellDefined": "ENSP00000367503.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271960" }, { "coordinates": [ { "allele": "T", "end": 901, "referenceAllele": "C", "start": 900 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378258.5:c.394C>T" ], "proteinEffect": { "hgvs": "ENSP00000367506.1:p.Gln132Ter", "hgvsWellDefined": "ENSP00000367506.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271962" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "C", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378278.6:c.754C>T" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Gln252Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Gln252_Thr692delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271968" }, { "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378289.8:c.754C>T" ], "proteinEffect": { "hgvs": "ENSP00000367538.4:p.Gln252Ter", "hgvsWellDefined": "ENSP00000367538.4:p.Gln252_Ile434delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlySerHisSerValThrGlnAlaArgMetArgTrpCysHisHisAspSerLeuTyrProLeuThrProGlyIleLysArgSerSerCysLeuSerLeuLeuThrSerTrpIleThrGlyAlaTyrArgHisAlaGlnLeuMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271974" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000396817.6:c.394C>T" ], "proteinEffect": { "hgvs": "ENSP00000380030.2:p.Gln132Ter", "hgvsWellDefined": "ENSP00000380030.2:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277448" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "C", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000418843.5:c.316C>T" ], "proteinEffect": { "hgvs": "ENSP00000391428.1:p.Gln106Ter", "hgvsWellDefined": "ENSP00000391428.1:p.Gln106Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285599" }, { "@id": "http://reg.genome.network/allele/PA2825372829", "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033855.2:c.754C>T" ], "proteinEffect": { "hgvs": "NP_001029027.1:p.Gln252Ter", "hgvsWellDefined": "NP_001029027.1:p.Gln252_Thr692delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009167" }, { "@id": "http://reg.genome.network/allele/PA2825373242", "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.2:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Gln132Ter", "hgvsWellDefined": "NP_001029029.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009168" }, { "@id": "http://reg.genome.network/allele/PA2825373727", "coordinates": [ { "allele": "T", "end": 1583, "referenceAllele": "C", "start": 1582 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.2:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Gln132Ter", "hgvsWellDefined": "NP_001029030.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009169" }, { "@id": "http://reg.genome.network/allele/PA2826755761", "coordinates": [ { "allele": "T", "end": 1035, "referenceAllele": "C", "start": 1034 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.1:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Gln137Ter", "hgvsWellDefined": "NP_001276005.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023772" }, { "@id": "http://reg.genome.network/allele/PA2826756243", "coordinates": [ { "allele": "T", "end": 1307, "referenceAllele": "C", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.1:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Gln132Ter", "hgvsWellDefined": "NP_001276006.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023773" }, { "@id": "http://reg.genome.network/allele/PA2826756728", "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.1:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Gln137Ter", "hgvsWellDefined": "NP_001276007.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023774" }, { "@id": "http://reg.genome.network/allele/PA2826757211", "coordinates": [ { "allele": "T", "end": 1629, "referenceAllele": "C", "start": 1628 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.1:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Gln132Ter", "hgvsWellDefined": "NP_001276008.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023775" }, { "@id": "http://reg.genome.network/allele/PA2830003440", "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.3:c.409C>T" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Gln137Ter", "hgvsWellDefined": "NP_071932.2:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037349" }, { "coordinates": [ { "allele": "T", "end": 1388, "referenceAllele": "C", "start": 1387 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.1:n.1388C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054576" }, { "coordinates": [ { "allele": "T", "end": 845, "referenceAllele": "C", "start": 844 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_006717491.2:c.409C>T" ], "proteinEffect": { "hgvs": "XP_006717554.1:p.Gln137Ter", "hgvsWellDefined": "XP_006717554.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072189" }, { "coordinates": [ { "allele": "T", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519616.1:c.409C>T" ], "proteinEffect": { "hgvs": "XP_011517918.1:p.Gln137Ter", "hgvsWellDefined": "XP_011517918.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086788" }, { "coordinates": [ { "allele": "T", "end": 985, "referenceAllele": "C", "start": 984 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519617.1:c.409C>T" ], "proteinEffect": { "hgvs": "XP_011517919.1:p.Gln137Ter", "hgvsWellDefined": "XP_011517919.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086789" }, { "coordinates": [ { "allele": "T", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519618.1:c.409C>T" ], "proteinEffect": { "hgvs": "XP_011517920.1:p.Gln137Ter", "hgvsWellDefined": "XP_011517920.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086790" }, { "coordinates": [ { "allele": "T", "end": 1012, "referenceAllele": "C", "start": 1011 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519619.1:c.394C>T" ], "proteinEffect": { "hgvs": "XP_011517921.1:p.Gln132Ter", "hgvsWellDefined": "XP_011517921.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086791" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519620.1:c.754C>T" ], "proteinEffect": { "hgvs": "XP_011517922.1:p.Gln252Ter", "hgvsWellDefined": "XP_011517922.1:p.Gln252_Glu388delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086792" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519621.1:c.754C>T" ], "proteinEffect": { "hgvs": "XP_011517923.1:p.Gln252Ter", "hgvsWellDefined": "XP_011517923.1:p.Gln252_Ser310delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086793" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_242702.2:n.851C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116341" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930514.1:n.851C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS126642" }, { "coordinates": [ { "allele": "T", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.1:n.851C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS126643" }, { "@id": "http://reg.genome.network/allele/PA916030707", "coordinates": [ { "allele": "T", "end": 1176, "referenceAllele": "C", "start": 1175 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.1:c.754C>T" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Gln252Ter", "hgvsWellDefined": "NP_001337894.1:p.Gln252_Leu614delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519799" }, { "@id": "http://reg.genome.network/allele/PA2827581144", "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.1:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Gln137Ter", "hgvsWellDefined": "NP_001337895.1:p.Gln137_Leu499delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519800" }, { "@id": "http://reg.genome.network/allele/PA2827581530", "coordinates": [ { "allele": "T", "end": 1261, "referenceAllele": "C", "start": 1260 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.1:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Gln132Ter", "hgvsWellDefined": "NP_001337896.1:p.Gln132_Leu494delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS568973" }, { "coordinates": [ { "allele": "T", "end": 755, "referenceAllele": "C", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448134.1:c.394C>T" ], "proteinEffect": { "hgvs": "XP_024303902.1:p.Gln132Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS581714" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448135.1:c.409C>T" ], "proteinEffect": { "hgvs": "XP_024303903.1:p.Gln137Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS581715" }, { "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747185.2:n.1098C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595377" }, { "coordinates": [ { "allele": "T", "end": 734, "referenceAllele": "C", "start": 733 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747187.1:n.734C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595378" }, { "coordinates": [ { "allele": "T", "end": 1098, "referenceAllele": "C", "start": 1097 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.2:n.1098C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609552" }, { "@id": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS663073", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.754C>T" }, "RefSeq": { "hgvs": "NM_001033855.3:c.754C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Gln252Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Gln252Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825373242", "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.3:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Gln132Ter", "hgvsWellDefined": "NP_001029029.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675805" }, { "@id": "http://reg.genome.network/allele/PA2825373727", "coordinates": [ { "allele": "T", "end": 1247, "referenceAllele": "C", "start": 1246 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.3:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Gln132Ter", "hgvsWellDefined": "NP_001029030.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675806" }, { "@id": "http://reg.genome.network/allele/PA2826755761", "coordinates": [ { "allele": "T", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.2:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Gln137Ter", "hgvsWellDefined": "NP_001276005.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682606" }, { "@id": "http://reg.genome.network/allele/PA2826756243", "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.2:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Gln132Ter", "hgvsWellDefined": "NP_001276006.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682607" }, { "@id": "http://reg.genome.network/allele/PA2826756728", "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.2:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Gln137Ter", "hgvsWellDefined": "NP_001276007.1:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682608" }, { "@id": "http://reg.genome.network/allele/PA2826757211", "coordinates": [ { "allele": "T", "end": 1293, "referenceAllele": "C", "start": 1292 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.2:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Gln132Ter", "hgvsWellDefined": "NP_001276008.1:p.Gln132_Thr572delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682609" }, { "@id": "http://reg.genome.network/allele/PA916030707", "coordinates": [ { "allele": "T", "end": 840, "referenceAllele": "C", "start": 839 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.2:c.754C>T" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Gln252Ter", "hgvsWellDefined": "NP_001337894.1:p.Gln252_Leu614delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688596" }, { "@id": "http://reg.genome.network/allele/PA2827581144", "coordinates": [ { "allele": "T", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.2:c.409C>T" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Gln137Ter", "hgvsWellDefined": "NP_001337895.1:p.Gln137_Leu499delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688597" }, { "@id": "http://reg.genome.network/allele/PA2827581530", "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.2:c.394C>T" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Gln132Ter", "hgvsWellDefined": "NP_001337896.1:p.Gln132_Leu494delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688598" }, { "@id": "http://reg.genome.network/allele/PA2830003440", "coordinates": [ { "allele": "T", "end": 784, "referenceAllele": "C", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.4:c.409C>T" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Gln137Ter", "hgvsWellDefined": "NP_071932.2:p.Gln137_Thr577delinsIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698549" }, { "coordinates": [ { "allele": "T", "end": 1052, "referenceAllele": "C", "start": 1051 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.2:n.1052C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703126" }, { "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.2:n.869C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704456" } ], "type": "nucleotide" }