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"ENSP00000513100.1:n.*491C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908496" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697088.1:c.*188C>T" ], "proteinEffect": { "hgvs": "ENSP00000513101.1:n.*188C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908497" }, { "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697089.1:c.*491C>T" ], "proteinEffect": { "hgvs": "ENSP00000513102.1:n.*491C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908498" }, { "coordinates": [ { "allele": "T", "end": 579, "referenceAllele": "C", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697090.1:n.579C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908499" }, { "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378278.7:c.571C>T" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Arg191Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Arg191_Thr692delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752059", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.571C>T" }, "RefSeq": { "hgvs": "NM_001033855.3:c.571C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Arg191Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Arg191Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "C", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000357717.6:c.226C>T" ], "proteinEffect": { "hgvs": "ENSP00000350349.2:p.Arg76Ter", "hgvsWellDefined": "ENSP00000350349.2:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264206" }, { "coordinates": [ { "allele": "T", "end": 791, "referenceAllele": "C", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378241.5:c.211C>T" ], "proteinEffect": { "hgvs": "ENSP00000367487.1:p.Arg71Ter", "hgvsWellDefined": "ENSP00000367487.1:p.Arg71Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS271951" }, { "coordinates": [ { "allele": "T", "end": 600, "referenceAllele": "C", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378246.6:c.226C>T" ], "proteinEffect": { "hgvs": "ENSP00000367492.2:p.Arg76Ter", "hgvsWellDefined": "ENSP00000367492.2:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271955" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "C", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378249.5:c.226C>T" ], "proteinEffect": { "hgvs": "ENSP00000367496.1:p.Arg76Ter", "hgvsWellDefined": "ENSP00000367496.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271957" }, { "coordinates": [ { "allele": "T", "end": 740, "referenceAllele": "C", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378254.5:c.211C>T" ], "proteinEffect": { "hgvs": "ENSP00000367502.1:p.Arg71Ter", "hgvsWellDefined": "ENSP00000367502.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271959" }, { "coordinates": [ { "allele": "T", "end": 1062, "referenceAllele": "C", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378255.5:c.211C>T" ], "proteinEffect": { "hgvs": "ENSP00000367503.1:p.Arg71Ter", "hgvsWellDefined": "ENSP00000367503.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271960" }, { "coordinates": [ { "allele": "T", "end": 718, "referenceAllele": "C", "start": 717 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378258.5:c.211C>T" ], "proteinEffect": { "hgvs": "ENSP00000367506.1:p.Arg71Ter", "hgvsWellDefined": "ENSP00000367506.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271962" }, { "coordinates": [ { "allele": "T", "end": 609, "referenceAllele": "C", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378278.6:c.571C>T" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Arg191Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Arg191_Thr692delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271968" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378289.8:c.571C>T" ], "proteinEffect": { "hgvs": "ENSP00000367538.4:p.Arg191Ter", "hgvsWellDefined": "ENSP00000367538.4:p.Arg191_Ile434delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlySerHisSerValThrGlnAlaArgMetArgTrpCysHisHisAspSerLeuTyrProLeuThrProGlyIleLysArgSerSerCysLeuSerLeuLeuThrSerTrpIleThrGlyAlaTyrArgHisAlaGlnLeuMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271974" }, { "coordinates": [ { "allele": "T", "end": 1016, "referenceAllele": "C", "start": 1015 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000396817.6:c.211C>T" ], "proteinEffect": { "hgvs": "ENSP00000380030.2:p.Arg71Ter", "hgvsWellDefined": "ENSP00000380030.2:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277448" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000418843.5:c.133C>T" ], "proteinEffect": { "hgvs": "ENSP00000391428.1:p.Arg45Ter", "hgvsWellDefined": "ENSP00000391428.1:p.Arg45Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS285599" }, { "@id": "http://reg.genome.network/allele/PA2825372781", "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033855.2:c.571C>T" ], "proteinEffect": { "hgvs": "NP_001029027.1:p.Arg191Ter", "hgvsWellDefined": "NP_001029027.1:p.Arg191_Thr692delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009167" }, { "@id": "http://reg.genome.network/allele/PA2825373190", "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.2:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Arg71Ter", "hgvsWellDefined": "NP_001029029.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009168" }, { "@id": "http://reg.genome.network/allele/PA2825373673", "coordinates": [ { "allele": "T", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.2:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Arg71Ter", "hgvsWellDefined": "NP_001029030.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009169" }, { "@id": "http://reg.genome.network/allele/PA2826755707", "coordinates": [ { "allele": "T", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.1:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Arg76Ter", "hgvsWellDefined": "NP_001276005.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023772" }, { "@id": "http://reg.genome.network/allele/PA2826756191", "coordinates": [ { "allele": "T", "end": 1124, "referenceAllele": "C", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.1:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Arg71Ter", "hgvsWellDefined": "NP_001276006.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023773" }, { "@id": "http://reg.genome.network/allele/PA2826756675", "coordinates": [ { "allele": "T", "end": 885, "referenceAllele": "C", "start": 884 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.1:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Arg76Ter", "hgvsWellDefined": "NP_001276007.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023774" }, { "@id": "http://reg.genome.network/allele/PA2826757159", "coordinates": [ { "allele": "T", "end": 1446, "referenceAllele": "C", "start": 1445 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.1:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Arg71Ter", "hgvsWellDefined": "NP_001276008.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023775" }, { "@id": "http://reg.genome.network/allele/PA2573095300", "coordinates": [ { "allele": "T", "end": 937, "referenceAllele": "C", "start": 936 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.3:c.226C>T" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Arg76Ter", "hgvsWellDefined": "NP_071932.2:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037349" }, { "coordinates": [ { "allele": "T", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.1:n.1205C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS054576" }, { "coordinates": [ { "allele": "T", "end": 662, "referenceAllele": "C", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_006717491.2:c.226C>T" ], "proteinEffect": { "hgvs": "XP_006717554.1:p.Arg76Ter", "hgvsWellDefined": "XP_006717554.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072189" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519616.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_011517918.1:p.Arg76Ter", "hgvsWellDefined": "XP_011517918.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086788" }, { "coordinates": [ { "allele": "T", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519617.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_011517919.1:p.Arg76Ter", "hgvsWellDefined": "XP_011517919.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086789" }, { "coordinates": [ { "allele": "T", "end": 929, "referenceAllele": "C", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519618.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_011517920.1:p.Arg76Ter", "hgvsWellDefined": "XP_011517920.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086790" }, { "coordinates": [ { "allele": "T", "end": 829, "referenceAllele": "C", "start": 828 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519619.1:c.211C>T" ], "proteinEffect": { "hgvs": "XP_011517921.1:p.Arg71Ter", "hgvsWellDefined": "XP_011517921.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086791" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519620.1:c.571C>T" ], "proteinEffect": { "hgvs": "XP_011517922.1:p.Arg191Ter", "hgvsWellDefined": 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"hgvsWellDefined": "XP_011517923.1:p.Arg191_Ser310delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086793" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_242702.2:n.668C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS116341" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930514.1:n.668C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS126642" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.1:n.668C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS126643" }, { "@id": "http://reg.genome.network/allele/PA2827580860", "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.1:c.571C>T" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Arg191Ter", "hgvsWellDefined": "NP_001337894.1:p.Arg191_Leu614delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" 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"NP_001337895.1:p.Arg76_Leu499delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519800" }, { "@id": "http://reg.genome.network/allele/PA2827581478", "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.1:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Arg71Ter", "hgvsWellDefined": "NP_001337896.1:p.Arg71_Leu494delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519801" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146960.1:n.993C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530513" }, { "coordinates": [ { "allele": "T", "end": 1022, "referenceAllele": "C", "start": 1021 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.1:n.1022C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530514" }, { "coordinates": [ { "allele": "T", "end": 993, "referenceAllele": "C", "start": 992 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146962.1:n.993C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530515" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "C", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_006717491.4:c.226C>T" ], "proteinEffect": { "hgvs": "XP_006717554.1:p.Arg76Ter", "hgvsWellDefined": "XP_006717554.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539425" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519620.3:c.571C>T" ], "proteinEffect": { "hgvs": "XP_011517922.1:p.Arg191Ter", "hgvsWellDefined": "XP_011517922.1:p.Arg191_Glu388delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545430" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519621.2:c.571C>T" ], "proteinEffect": { "hgvs": "XP_011517923.1:p.Arg191Ter", "hgvsWellDefined": "XP_011517923.1:p.Arg191_Ser310delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545431" }, { "coordinates": [ { "allele": "T", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_017016557.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_016872046.1:p.Arg76Ter", "hgvsWellDefined": "XP_016872046.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568972" }, { "coordinates": [ { "allele": "T", "end": 741, "referenceAllele": "C", "start": 740 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_017016558.1:c.211C>T" ], "proteinEffect": { "hgvs": "XP_016872047.1:p.Arg71Ter", "hgvsWellDefined": "XP_016872047.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568973" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "C", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448134.1:c.211C>T" ], "proteinEffect": { "hgvs": "XP_024303902.1:p.Arg71Ter", "hgvsWellDefined": "XP_024303902.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581714" }, { "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448135.1:c.226C>T" ], "proteinEffect": { "hgvs": "XP_024303903.1:p.Arg76Ter", "hgvsWellDefined": "XP_024303903.1:p.Arg76_Leu499delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581715" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747185.2:n.915C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595377" }, { "coordinates": [ { "allele": "T", "end": 551, "referenceAllele": "C", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747187.1:n.551C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS595378" }, { "coordinates": [ { "allele": "T", "end": 915, "referenceAllele": "C", "start": 914 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.2:n.915C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS609552" }, { "@id": "http://reg.genome.network/allele/PA2825372781", "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033855.3:c.571C>T" ], "proteinEffect": { "hgvs": "NP_001029027.1:p.Arg191Ter", "hgvsWellDefined": "NP_001029027.1:p.Arg191_Thr692delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663073", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.571C>T" }, "RefSeq": { "hgvs": "NM_001033855.3:c.571C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Arg191Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Arg191Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825373190", "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.3:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Arg71Ter", "hgvsWellDefined": "NP_001029029.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675805" }, { "@id": "http://reg.genome.network/allele/PA2825373673", "coordinates": [ { "allele": "T", "end": 1064, "referenceAllele": "C", "start": 1063 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.3:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Arg71Ter", "hgvsWellDefined": "NP_001029030.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675806" }, { "@id": "http://reg.genome.network/allele/PA2826755707", "coordinates": [ { "allele": "T", "end": 516, "referenceAllele": "C", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.2:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Arg76Ter", "hgvsWellDefined": "NP_001276005.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682606" }, { "@id": "http://reg.genome.network/allele/PA2826756191", "coordinates": [ { "allele": "T", "end": 788, "referenceAllele": "C", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.2:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Arg71Ter", "hgvsWellDefined": "NP_001276006.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682607" }, { "@id": "http://reg.genome.network/allele/PA2826756675", "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.2:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Arg76Ter", "hgvsWellDefined": "NP_001276007.1:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682608" }, { "@id": "http://reg.genome.network/allele/PA2826757159", "coordinates": [ { "allele": "T", "end": 1110, "referenceAllele": "C", "start": 1109 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.2:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Arg71Ter", "hgvsWellDefined": "NP_001276008.1:p.Arg71_Thr572delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682609" }, { "@id": "http://reg.genome.network/allele/PA2827580860", "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.2:c.571C>T" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Arg191Ter", "hgvsWellDefined": "NP_001337894.1:p.Arg191_Leu614delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688596" }, { "@id": "http://reg.genome.network/allele/PA2827581089", "coordinates": [ { "allele": "T", "end": 549, "referenceAllele": "C", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.2:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Arg76Ter", "hgvsWellDefined": "NP_001337895.1:p.Arg76_Leu499delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688597" }, { "@id": "http://reg.genome.network/allele/PA2827581478", "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.2:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Arg71Ter", "hgvsWellDefined": "NP_001337896.1:p.Arg71_Leu494delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688598" }, { "@id": "http://reg.genome.network/allele/PA2573095300", "coordinates": [ { "allele": "T", "end": 601, "referenceAllele": "C", "start": 600 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.4:c.226C>T" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Arg76Ter", "hgvsWellDefined": "NP_071932.2:p.Arg76_Thr577delinsSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698549" }, { "coordinates": [ { "allele": "T", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.2:n.869C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS703126" }, { "coordinates": [ { "allele": "T", "end": 686, "referenceAllele": "C", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.2:n.686C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704456" } ], "type": "nucleotide" }