{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA117001", "communityStandardTitle": [ "NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19704[alleleid]", "alleleId": 19704, "preferredName": "NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4665", "RCV": [ "RCV000004929", "RCV000224235", "RCV000762806", "RCV001272780", "RCV003486542" ], "variationId": 4665 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/10-14987109-G-A", "id": "10-14987109-G-A", "variant": "10:14987109 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.14987109G>A?assembly=hg19", "id": "chr10:g.14987109G>A" }, { "@id": "http://myvariant.info/v1/variant/chr10:g.14987109_14987110delinsAT?assembly=hg19", "id": 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"referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 14987109, "referenceAllele": "G", "start": 14987108 } ], "hgvs": [ "NC_000010.10:g.14987109G>A", "CM000672.1:g.14987109G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "A", "end": 15027115, "referenceAllele": "G", "start": 15027114 } ], "hgvs": [ "NC_000010.9:g.15027115G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 13986, "referenceAllele": "C", "start": 13985 } ], "hgvs": [ "NG_007276.1:g.13986C>T", "LRG_54:g.13986C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000524" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 748, "referenceAllele": "C", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN017642", 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"C", "start": 270 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000492201.6:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000512999.1:p.Arg81Ter", "hgvsWellDefined": "ENSP00000512999.1:p.Arg81_Ser356delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905394" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697047.1:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000513066.1:p.Arg81Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS908479" }, { "coordinates": [ { "allele": "T", "end": 374, "referenceAllele": "C", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697071.1:c.*161C>T" ], "proteinEffect": { "hgvs": "ENSP00000513086.1:n.*161C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS908480" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697072.1:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000513087.1:p.Arg81Ter", "hgvsWellDefined": "ENSP00000513087.1:p.Arg81_Ser310delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908481" }, { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ 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"ENSP00000513090.1:p.Arg81_Thr692delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908484" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697076.1:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000513091.1:p.Arg81Ter", "hgvsWellDefined": "ENSP00000513091.1:p.Arg81_Ser310delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908485" }, { "coordinates": [ { "allele": "T", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ 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"ENSP00000513098.1:p.Arg81_Thr711delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluSerGlnIleSerThrSerLeuSerPheValGlnIleLysSerValLeuGlyGlyGlnIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" 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"ENSP00000367527.2:p.Arg81Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Arg81_Thr692delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" 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"geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378241.5:c.-247C>T" ], "proteinEffect": { "hgvs": "ENSP00000367487.1:n.-247C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271951" }, { "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "C", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378246.6:c.-49C>T" ], "proteinEffect": { "hgvs": "ENSP00000367492.2:n.-49C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271955" }, { "coordinates": [ { "allele": "T", "end": 227, "referenceAllele": "C", "start": 226 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378249.5:c.-49C>T" ], "proteinEffect": { "hgvs": "ENSP00000367496.1:n.-49C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271957" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378254.5:c.-120C>T" ], "proteinEffect": { "hgvs": "ENSP00000367502.1:n.-120C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271959" }, { "coordinates": [ { "allele": "T", "end": 410, "referenceAllele": "C", "start": 409 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378255.5:c.-442C>T" ], "proteinEffect": { "hgvs": "ENSP00000367503.1:n.-442C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271960" }, { "coordinates": [ { "allele": "T", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378258.5:c.-120C>T" ], "proteinEffect": { "hgvs": "ENSP00000367506.1:n.-120C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS271962" }, { "coordinates": [ { "allele": "T", "end": 279, "referenceAllele": "C", "start": 278 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378278.6:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Arg81Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Arg81_Thr692delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271968" }, { "coordinates": [ { "allele": "T", "end": 663, "referenceAllele": "C", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378289.8:c.241C>T" ], "proteinEffect": { "hgvs": "ENSP00000367538.4:p.Arg81Ter", "hgvsWellDefined": "ENSP00000367538.4:p.Arg81_Ile434delinsIleIleSerIleGluIleGluThrProThrGlnIleSerLeuValAspGluAlaSerGlyGluLysGluGluIleValValThrLeuLeuProAlaGlyHisCysProGlySerValMetPheLeuPheGlnGlyAsnAsnGlyThrValLeuTyrThrGlyAspPheArgLeuAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlySerHisSerValThrGlnAlaArgMetArgTrpCysHisHisAspSerLeuTyrProLeuThrProGlyIleLysArgSerSerCysLeuSerLeuLeuThrSerTrpIleThrGlyAlaTyrArgHisAlaGlnLeuMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271974" }, { "coordinates": [ { "allele": "T", "end": 364, "referenceAllele": "C", "start": 363 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000396817.6:c.-442C>T" ], "proteinEffect": { "hgvs": "ENSP00000380030.2:n.-442C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS277448" }, { "coordinates": [ { "allele": "T", "end": 393, "referenceAllele": "C", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000418843.5:c.-157C>T" ], "proteinEffect": { "hgvs": "ENSP00000391428.1:n.-157C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS285599" }, { "coordinates": [ { "allele": "T", "end": 335, "referenceAllele": "C", "start": 334 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ 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