{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA376060124", "communityStandardTitle": [ "NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834022[alleleid]", "alleleId": 2834022, "preferredName": "NM_001033855.3(DCLRE1C):c.416T>A (p.Leu139Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2674747", "RCV": [ "RCV003466116" ], "variationId": 2674747 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.14977510A>T?assembly=hg19", "id": "chr10:g.14977510A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.14935511A>T?assembly=hg38", "id": "chr10:g.14935511A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2492040094", "rs": 2492040094 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 14935511, "referenceAllele": "A", "start": 14935510 } ], "hgvs": [ "NC_000010.11:g.14935511A>T", "CM000672.2:g.14935511A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 14977510, "referenceAllele": "A", "start": 14977509 } ], "hgvs": [ "NC_000010.10:g.14977510A>T", "CM000672.1:g.14977510A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 15017516, "referenceAllele": "A", "start": 15017515 } ], "hgvs": [ "NC_000010.9:g.15017516A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "A", "end": 23585, "referenceAllele": "T", "start": 23584 } ], "hgvs": [ "NG_007276.1:g.23585T>A", "LRG_54:g.23585T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000524" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378241.6:c.*463T>A" ], "proteinEffect": { "hgvs": "ENSP00000367487.3:n.*463T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS904556" }, { "coordinates": [ { "allele": "A", "end": 1189, "referenceAllele": "T", "start": 1188 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000456122.2:c.*602T>A" ], "proteinEffect": { "hgvs": "ENSP00000413180.3:n.*602T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905041" }, { "coordinates": [ { "allele": "A", "end": 657, "referenceAllele": "T", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000489161.2:c.*194T>A" ], "proteinEffect": { "hgvs": "ENSP00000513000.2:n.*194T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905361" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "T", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000492201.6:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000512999.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000512999.1:p.Leu139_Ser356delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905394" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "T", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697047.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513066.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513066.1:p.Leu139_Leu614delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908478" }, { "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "T", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697070.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513085.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513085.1:p.Leu139_Ile725delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlySerHisSerValThrGlnAlaArgMetArgTrpCysHisHisAspSerLeuTyrProLeuThrProGlyIleLysArgSerSerCysLeuSerLeuLeuThrSerTrpIleThrGlyAlaTyrArgHisAlaGlnLeuMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908479" }, { "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "T", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697071.1:c.*336T>A" ], "proteinEffect": { "hgvs": "ENSP00000513086.1:n.*336T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908480" }, { "coordinates": [ { "allele": "A", "end": 470, "referenceAllele": "T", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697072.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513087.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513087.1:p.Leu139_Ser310delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908481" }, { "coordinates": [ { "allele": "A", "end": 386, "referenceAllele": "T", "start": 385 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697073.1:c.*194T>A" ], "proteinEffect": { "hgvs": "ENSP00000513088.2:n.*194T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908482" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "T", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697074.1:c.*194T>A" ], "proteinEffect": { "hgvs": "ENSP00000513089.2:n.*194T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908483" }, { "coordinates": [ { "allele": "A", "end": 494, "referenceAllele": "T", "start": 493 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697075.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513090.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513090.1:p.Leu139_Thr692delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908484" }, { "coordinates": [ { "allele": "A", "end": 489, "referenceAllele": "T", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697076.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513091.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513091.1:p.Leu139_Ser310delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908485" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "T", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697077.1:c.*127T>A" ], "proteinEffect": { "hgvs": "ENSP00000513092.1:n.*127T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908486" }, { "coordinates": [ { "allele": "A", "end": 571, "referenceAllele": "T", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697078.1:c.*123T>A" ], "proteinEffect": { "hgvs": "ENSP00000513093.1:n.*123T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908487" }, { "coordinates": [ { "allele": "A", "end": 120, "referenceAllele": "T", "start": 119 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697079.1:n.120T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908488" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "T", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697080.1:c.*280T>A" ], "proteinEffect": { "hgvs": "ENSP00000513094.1:n.*280T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908489" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "T", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697081.1:c.*33T>A" ], "proteinEffect": { "hgvs": "ENSP00000513095.1:n.*33T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908490" }, { "coordinates": [ { "allele": "A", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697082.1:c.*602T>A" ], "proteinEffect": { "hgvs": "ENSP00000513096.1:n.*602T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908491" }, { "coordinates": [ { "allele": "A", "end": 471, "referenceAllele": "T", "start": 470 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697083.1:c.*276T>A" ], "proteinEffect": { "hgvs": "ENSP00000513097.1:n.*276T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908492" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "T", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697084.1:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000513098.1:p.Leu139Ter", "hgvsWellDefined": "ENSP00000513098.1:p.Leu139_Thr711delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluSerGlnIleSerThrSerLeuSerPheValGlnIleLysSerValLeuGlyGlyGlnIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908493" }, { "coordinates": [ { "allele": "A", "end": 591, "referenceAllele": "T", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697085.1:c.*183T>A" ], "proteinEffect": { "hgvs": "ENSP00000513099.1:n.*183T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908494" }, { "coordinates": [ { "allele": "A", "end": 2853, "referenceAllele": "T", "start": 2852 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697086.1:n.2853T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908495" }, { "coordinates": [ { "allele": "A", "end": 576, "referenceAllele": "T", "start": 575 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697087.1:c.*336T>A" ], "proteinEffect": { "hgvs": "ENSP00000513100.1:n.*336T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908496" }, { "coordinates": [ { "allele": "A", "end": 435, "referenceAllele": "T", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697088.1:c.*33T>A" ], "proteinEffect": { "hgvs": "ENSP00000513101.1:n.*33T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908497" }, { "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "T", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697089.1:c.*336T>A" ], "proteinEffect": { "hgvs": "ENSP00000513102.1:n.*336T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS908498" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "T", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000697090.1:n.424T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS908499" }, { "coordinates": [ { "allele": "A", "end": 502, "referenceAllele": "T", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378278.7:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Leu139Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Leu139_Thr692delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752059", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.416T>A" }, "RefSeq": { "hgvs": "NM_001033855.3:c.416T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Leu139Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Leu139Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 323, "referenceAllele": "T", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000357717.6:c.71T>A" ], "proteinEffect": { "hgvs": "ENSP00000350349.2:p.Leu24Ter", "hgvsWellDefined": "ENSP00000350349.2:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264206" }, { "coordinates": [ { "allele": "A", "end": 636, "referenceAllele": "T", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378241.5:c.56T>A" ], "proteinEffect": { "hgvs": "ENSP00000367487.1:p.Leu19Ter", "hgvsWellDefined": "ENSP00000367487.1:p.Leu19Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS271951" }, { "coordinates": [ { "allele": "A", "end": 445, "referenceAllele": "T", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378246.6:c.71T>A" ], "proteinEffect": { "hgvs": "ENSP00000367492.2:p.Leu24Ter", "hgvsWellDefined": "ENSP00000367492.2:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271955" }, { "coordinates": [ { "allele": "A", "end": 346, "referenceAllele": "T", "start": 345 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378249.5:c.71T>A" ], "proteinEffect": { "hgvs": "ENSP00000367496.1:p.Leu24Ter", "hgvsWellDefined": "ENSP00000367496.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271957" }, { "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "T", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378254.5:c.56T>A" ], "proteinEffect": { "hgvs": "ENSP00000367502.1:p.Leu19Ter", "hgvsWellDefined": "ENSP00000367502.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271959" }, { "coordinates": [ { "allele": "A", "end": 907, "referenceAllele": "T", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378255.5:c.56T>A" ], "proteinEffect": { "hgvs": "ENSP00000367503.1:p.Leu19Ter", "hgvsWellDefined": "ENSP00000367503.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271960" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "T", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378258.5:c.56T>A" ], "proteinEffect": { "hgvs": "ENSP00000367506.1:p.Leu19Ter", "hgvsWellDefined": "ENSP00000367506.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271962" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378278.6:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000367527.2:p.Leu139Ter", "hgvsWellDefined": "ENSP00000367527.2:p.Leu139_Thr692delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271968" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000378289.8:c.416T>A" ], "proteinEffect": { "hgvs": "ENSP00000367538.4:p.Leu139Ter", "hgvsWellDefined": "ENSP00000367538.4:p.Leu139_Ile434delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlySerHisSerValThrGlnAlaArgMetArgTrpCysHisHisAspSerLeuTyrProLeuThrProGlyIleLysArgSerSerCysLeuSerLeuLeuThrSerTrpIleThrGlyAlaTyrArgHisAlaGlnLeuMetIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS271974" }, { "coordinates": [ { "allele": "A", "end": 861, "referenceAllele": "T", "start": 860 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000396817.6:c.56T>A" ], "proteinEffect": { "hgvs": "ENSP00000380030.2:p.Leu19Ter", "hgvsWellDefined": "ENSP00000380030.2:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277448" }, { "coordinates": [ { "allele": "A", "end": 527, "referenceAllele": "T", "start": 526 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000418843.5:c.-23T>A" ], "proteinEffect": { "hgvs": "ENSP00000391428.1:n.-23T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS285599" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "T", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "ENST00000456122.1:c.71T>A" ], "proteinEffect": { "hgvs": "ENSP00000413180.1:p.Leu24Ter", "hgvsWellDefined": "ENSP00000413180.1:p.Leu24Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS303345" }, { "@id": "http://reg.genome.network/allele/PA2825372736", "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033855.2:c.416T>A" ], "proteinEffect": { "hgvs": "NP_001029027.1:p.Leu139Ter", "hgvsWellDefined": "NP_001029027.1:p.Leu139_Thr692delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009167" }, { "@id": "http://reg.genome.network/allele/PA2825373143", "coordinates": [ { "allele": "A", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.2:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Leu19Ter", "hgvsWellDefined": "NP_001029029.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009168" }, { "@id": "http://reg.genome.network/allele/PA2825373625", "coordinates": [ { "allele": "A", "end": 1245, "referenceAllele": "T", "start": 1244 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.2:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Leu19Ter", "hgvsWellDefined": "NP_001029030.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009169" }, { "@id": "http://reg.genome.network/allele/PA2826755657", "coordinates": [ { "allele": "A", "end": 697, "referenceAllele": "T", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.1:c.71T>A" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Leu24Ter", "hgvsWellDefined": "NP_001276005.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023772" }, { "@id": "http://reg.genome.network/allele/PA2826756141", "coordinates": [ { "allele": "A", "end": 969, "referenceAllele": "T", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.1:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Leu19Ter", "hgvsWellDefined": "NP_001276006.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023773" }, { "@id": "http://reg.genome.network/allele/PA2826756626", "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "T", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.1:c.71T>A" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Leu24Ter", "hgvsWellDefined": "NP_001276007.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023774" }, { "@id": "http://reg.genome.network/allele/PA2826757109", "coordinates": [ { "allele": "A", "end": 1291, "referenceAllele": "T", "start": 1290 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.1:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Leu19Ter", "hgvsWellDefined": "NP_001276008.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023775" }, { "@id": "http://reg.genome.network/allele/PA2741982171", "coordinates": [ { "allele": "A", "end": 782, "referenceAllele": "T", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.3:c.71T>A" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Leu24Ter", "hgvsWellDefined": "NP_071932.2:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037349" }, { "coordinates": [ { "allele": "A", "end": 1050, "referenceAllele": "T", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.1:n.1050T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054576" }, { "coordinates": [ { "allele": "A", "end": 507, "referenceAllele": "T", "start": 506 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_006717491.2:c.71T>A" ], "proteinEffect": { "hgvs": "XP_006717554.1:p.Leu24Ter", "hgvsWellDefined": "XP_006717554.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072189" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "T", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519616.1:c.71T>A" ], "proteinEffect": { "hgvs": "XP_011517918.1:p.Leu24Ter", "hgvsWellDefined": "XP_011517918.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086788" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519617.1:c.71T>A" ], "proteinEffect": { "hgvs": "XP_011517919.1:p.Leu24Ter", "hgvsWellDefined": "XP_011517919.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086789" }, { "coordinates": [ { "allele": "A", "end": 774, "referenceAllele": "T", "start": 773 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519618.1:c.71T>A" ], "proteinEffect": { "hgvs": "XP_011517920.1:p.Leu24Ter", "hgvsWellDefined": "XP_011517920.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086790" }, { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "T", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519619.1:c.56T>A" ], "proteinEffect": { "hgvs": "XP_011517921.1:p.Leu19Ter", "hgvsWellDefined": "XP_011517921.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086791" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519620.1:c.416T>A" ], "proteinEffect": { "hgvs": "XP_011517922.1:p.Leu139Ter", "hgvsWellDefined": "XP_011517922.1:p.Leu139_Glu388delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086792" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519621.1:c.416T>A" ], "proteinEffect": { "hgvs": "XP_011517923.1:p.Leu139Ter", "hgvsWellDefined": "XP_011517923.1:p.Leu139_Ser310delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS086793" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_242702.2:n.513T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS116341" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930514.1:n.513T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS126642" }, { "coordinates": [ { "allele": "A", "end": 513, "referenceAllele": "T", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.1:n.513T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS126643" }, { "@id": "http://reg.genome.network/allele/PA2827580810", "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.1:c.416T>A" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Leu139Ter", "hgvsWellDefined": "NP_001337894.1:p.Leu139_Leu614delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519799" }, { "@id": "http://reg.genome.network/allele/PA2827581039", "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "T", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.1:c.71T>A" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Leu24Ter", "hgvsWellDefined": "NP_001337895.1:p.Leu24_Leu499delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519800" }, { "@id": "http://reg.genome.network/allele/PA2827581428", "coordinates": [ { "allele": "A", "end": 923, "referenceAllele": "T", "start": 922 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.1:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Leu19Ter", "hgvsWellDefined": "NP_001337896.1:p.Leu19_Leu494delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS519801" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146960.1:n.838T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530513" }, { "coordinates": [ { "allele": "A", "end": 867, "referenceAllele": "T", "start": 866 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.1:n.867T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530514" }, { "coordinates": [ { "allele": "A", "end": 838, "referenceAllele": "T", "start": 837 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146962.1:n.838T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530515" }, { "coordinates": [ { "allele": "A", "end": 528, "referenceAllele": "T", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_006717491.4:c.71T>A" ], "proteinEffect": { "hgvs": "XP_006717554.1:p.Leu24Ter", "hgvsWellDefined": "XP_006717554.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539425" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "T", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519620.3:c.416T>A" ], "proteinEffect": { "hgvs": "XP_011517922.1:p.Leu139Ter", "hgvsWellDefined": "XP_011517922.1:p.Leu139_Glu388delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGlyThrGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545430" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "T", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_011519621.2:c.416T>A" ], "proteinEffect": { "hgvs": "XP_011517923.1:p.Leu139Ter", "hgvsWellDefined": "XP_011517923.1:p.Leu139_Ser310delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgLeuLysIleSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS545431" }, { "coordinates": [ { "allele": "A", "end": 540, "referenceAllele": "T", "start": 539 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_017016557.1:c.71T>A" ], "proteinEffect": { "hgvs": "XP_016872046.1:p.Leu24Ter", "hgvsWellDefined": "XP_016872046.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568972" }, { "coordinates": [ { "allele": "A", "end": 586, "referenceAllele": "T", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_017016558.1:c.56T>A" ], "proteinEffect": { "hgvs": "XP_016872047.1:p.Leu19Ter", "hgvsWellDefined": "XP_016872047.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568973" }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "T", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448134.1:c.56T>A" ], "proteinEffect": { "hgvs": "XP_024303902.1:p.Leu19Ter", "hgvsWellDefined": "XP_024303902.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581714" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "T", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XM_024448135.1:c.71T>A" ], "proteinEffect": { "hgvs": "XP_024303903.1:p.Leu24Ter", "hgvsWellDefined": "XP_024303903.1:p.Leu24_Leu499delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS581715" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "T", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747185.2:n.760T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595377" }, { "coordinates": [ { "allele": "A", "end": 396, "referenceAllele": "T", "start": 395 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_001747187.1:n.396T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS595378" }, { "coordinates": [ { "allele": "A", "end": 760, "referenceAllele": "T", "start": 759 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "XR_930515.2:n.760T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS609552" }, { "@id": "http://reg.genome.network/allele/PA2825372736", "coordinates": [ { "allele": "A", "end": 502, "referenceAllele": "T", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033855.3:c.416T>A" ], "proteinEffect": { "hgvs": "NP_001029027.1:p.Leu139Ter", "hgvsWellDefined": "NP_001029027.1:p.Leu139_Thr692delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS663073", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000378278.7:c.416T>A" }, "RefSeq": { "hgvs": "NM_001033855.3:c.416T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000367527.2:p.Leu139Ter" }, "RefSeq": { "hgvs": "NP_001029027.1:p.Leu139Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825373143", "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "T", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033857.3:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001029029.1:p.Leu19Ter", "hgvsWellDefined": "NP_001029029.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675805" }, { "@id": "http://reg.genome.network/allele/PA2825373625", "coordinates": [ { "allele": "A", "end": 909, "referenceAllele": "T", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001033858.3:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001029030.1:p.Leu19Ter", "hgvsWellDefined": "NP_001029030.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675806" }, { "@id": "http://reg.genome.network/allele/PA2826755657", "coordinates": [ { "allele": "A", "end": 361, "referenceAllele": "T", "start": 360 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289076.2:c.71T>A" ], "proteinEffect": { "hgvs": "NP_001276005.1:p.Leu24Ter", "hgvsWellDefined": "NP_001276005.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682606" }, { "@id": "http://reg.genome.network/allele/PA2826756141", "coordinates": [ { "allele": "A", "end": 633, "referenceAllele": "T", "start": 632 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289077.2:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001276006.1:p.Leu19Ter", "hgvsWellDefined": "NP_001276006.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682607" }, { "@id": "http://reg.genome.network/allele/PA2826756626", "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "T", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289078.2:c.71T>A" ], "proteinEffect": { "hgvs": "NP_001276007.1:p.Leu24Ter", "hgvsWellDefined": "NP_001276007.1:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682608" }, { "@id": "http://reg.genome.network/allele/PA2826757109", "coordinates": [ { "allele": "A", "end": 955, "referenceAllele": "T", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001289079.2:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001276008.1:p.Leu19Ter", "hgvsWellDefined": "NP_001276008.1:p.Leu19_Thr572delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682609" }, { "@id": "http://reg.genome.network/allele/PA2827580810", "coordinates": [ { "allele": "A", "end": 502, "referenceAllele": "T", "start": 501 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350965.2:c.416T>A" ], "proteinEffect": { "hgvs": "NP_001337894.1:p.Leu139Ter", "hgvsWellDefined": "NP_001337894.1:p.Leu139_Leu614delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688596" }, { "@id": "http://reg.genome.network/allele/PA2827581039", "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "T", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350966.2:c.71T>A" ], "proteinEffect": { "hgvs": "NP_001337895.1:p.Leu24Ter", "hgvsWellDefined": "NP_001337895.1:p.Leu24_Leu499delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688597" }, { "@id": "http://reg.genome.network/allele/PA2827581428", "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "T", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_001350967.2:c.56T>A" ], "proteinEffect": { "hgvs": "NP_001337896.1:p.Leu19Ter", "hgvsWellDefined": "NP_001337896.1:p.Leu19_Leu494delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnGlyLeuThrLeuSerLeuArgLeuGluCysGlyGlyAlaIleMetThrProCysIleLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688598" }, { "@id": "http://reg.genome.network/allele/PA2741982171", "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "T", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NM_022487.4:c.71T>A" ], "proteinEffect": { "hgvs": "NP_071932.2:p.Leu24Ter", "hgvsWellDefined": "NP_071932.2:p.Leu24_Thr577delinsAlaGlnGlyGluAlaAlaArgMetGluLeuLeuHisSerGlyGlyArgValLysAspIleGlnSerValTyrLeuAspThrThrPheCysAspProArgPheTyrGlnIleProSerArgGluGluCysLeuSerGlyValLeuGluLeuValArgSerTrpIleThrArgSerProTyrHisValValTrpLeuAsnCysLysAlaAlaTyrGlyTyrGluTyrLeuPheThrAsnLeuSerGluGluLeuGlyValGlnValHisValAsnLysLeuAspMetPheArgAsnMetProGluIleLeuHisHisLeuThrThrAspArgAsnThrGlnIleHisAlaCysArgHisProLysAlaGluGluTyrPheGlnTrpSerLysLeuProCysGlyIleThrSerArgAsnArgIleProLeuHisIleIleSerIleLysProSerThrMetTrpPheGlyGluArgSerArgLysThrAsnValIleValArgThrGlyGluSerSerTyrArgAlaCysPheSerPheHisSerSerTyrSerGluIleLysAspPheLeuSerTyrLeuCysProValAsnAlaTyrProAsnValIleProValGlyThrThrMetAspLysValValGluIleLeuLysProLeuCysArgSerSerGlnSerThrGluProLysTyrLysProLeuGlyLysLeuLysArgAlaArgThrValHisArgAspSerGluGluGluAspAspTyrLeuPheAspAspProLeuProIleProLeuArgHisLysValProTyrProGluThrPheHisProGluValPheSerMetThrAlaValSerGluLysGlnProGluLysLeuArgGlnThrProGlyCysCysArgAlaGluCysMetGlnSerSerArgPheThrAsnPheValAspCysGluGluSerAsnSerGluSerGluGluGluValGlyIleProAlaSerLeuGlnGlyAspLeuGlySerValLeuHisLeuGlnLysAlaAspGlyAspValProGlnTrpGluValPhePheLysArgAsnAspGluIleThrAspGluSerLeuGluAsnPheProSerSerThrValAlaGlyGlySerGlnSerProLysLeuPheSerAspSerAspGlyGluSerThrHisIleSerSerGlnAsnSerSerGlnSerThrHisIleThrGluGlnGlySerGlnGlyTrpAspSerGlnSerAspThrValLeuLeuSerSerGlnGluArgAsnSerGlyAspIleThrSerLeuAspLysAlaAspTyrArgProThrIleLysGluAsnIleProAlaSerLeuMetGluGlnAsnValIleCysProLysAspThrTyrSerAspLeuLysSerArgAspLysAspValThrIleValProSerThrGlyGluProThrThrLeuSerSerGluThrHisIleProGluGluLysSerLeuLeuAsnLeuSerThrAsnAlaAspSerGlnSerSerSerAspPheGluValProSerThrProGluAlaGluLeuProLysArgGluHisLeuGlnTyrLeuTyrGluLysLeuAlaThrGlyGluSerIleAlaValLysLysArgLysCysSerLeuLeuAspThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698549" }, { "coordinates": [ { "allele": "A", "end": 714, "referenceAllele": "T", "start": 713 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_110297.2:n.714T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703126" }, { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "T", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN017642", "geneNCBI_id": 64421, "geneSymbol": "DCLRE1C", "hgvs": [ "NR_146961.2:n.531T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704456" } ], "type": "nucleotide" }