{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8051475", "communityStandardTitle": [ "NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2008604[alleleid]", "alleleId": 2008604, "preferredName": "NM_001370466.1(NOD2):c.1066G>T (p.Glu356Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1955780", "RCV": [ "RCV002720091" ], "variationId": 1955780 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-50744969-G-T", "id": "16-50744969-G-T", "variant": "16:50744969 G / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50744969G>T?assembly=hg19", "id": "chr16:g.50744969G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.50711058G>T?assembly=hg38", "id": "chr16:g.50711058G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/104895477", "rs": 104895477 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-50744969-G-T?dataset=gnomad_r2_1", "id": "16-50744969-G-T", "variant": "16:50744969 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-50711058-G-T?dataset=gnomad_r4", "id": "16-50711058-G-T", "variant": "16:50711058 G / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 50711058, "referenceAllele": "G", "start": 50711057 } ], "hgvs": [ "NC_000016.10:g.50711058G>T", "CM000678.2:g.50711058G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 50744969, "referenceAllele": "G", "start": 50744968 } ], "hgvs": [ "NC_000016.9:g.50744969G>T", "CM000678.1:g.50744969G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 49302470, "referenceAllele": "G", "start": 49302469 } ], "hgvs": [ "NC_000016.8:g.49302470G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "T", "end": 18920, "referenceAllele": "G", "start": 18919 } ], "hgvs": [ "NG_007508.1:g.18920G>T", "LRG_177:g.18920G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000628" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "G", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "ENST00000641284.2:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000493088.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000493088.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906395" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "G", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "ENST00000646677.2:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000496533.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000496533.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS906446" }, { "coordinates": [ { "allele": "T", "end": 1125, "referenceAllele": "G", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "ENST00000641284.1:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000493088.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000493088.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS765979" }, { "coordinates": [ { "allele": "T", "end": 1149, "referenceAllele": "G", "start": 1148 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "ENST00000646677.1:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000496533.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000496533.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769005" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "ENST00000647318.2:c.1066G>T" ], "proteinEffect": { "hgvs": "ENSP00000495993.1:p.Glu356Ter", "hgvsWellDefined": "ENSP00000495993.1:p.Glu356_Leu1013delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769349", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647318.2:c.1066G>T" }, "RefSeq": { "hgvs": "NM_001370466.1:c.1066G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495993.1:p.Glu356Ter" }, "RefSeq": { "hgvs": "NP_001357395.1:p.Glu356Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "G", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "ENST00000300589.6:c.1147G>T" ], "proteinEffect": { "hgvs": "ENSP00000300589.2:p.Glu383Ter", "hgvsWellDefined": "ENSP00000300589.2:p.Glu383_Leu1040delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS254893" }, { "@id": "http://reg.genome.network/allele/PA2826835449", "coordinates": [ { "allele": "T", "end": 1212, "referenceAllele": "G", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "NM_001293557.1:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_001280486.1:p.Glu356Ter", "hgvsWellDefined": "NP_001280486.1:p.Glu356_Leu1013delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS024535" }, { "@id": "http://reg.genome.network/allele/PA2580450835", "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "G", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "NM_022162.2:c.1147G>T" ], "proteinEffect": { "hgvs": "NP_071445.1:p.Glu383Ter", "hgvsWellDefined": "NP_071445.1:p.Glu383_Leu1040delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037254" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_005256084.2:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_005256141.1:p.Glu356Ter", "hgvsWellDefined": "XP_005256141.1:p.Glu356_Leu1013delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061158" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_006721242.2:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_006721305.1:p.Glu356Ter", "hgvsWellDefined": "XP_006721305.1:p.Glu356_Leu985delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074002" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_006721243.2:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_006721306.1:p.Glu356Ter", "hgvsWellDefined": "XP_006721306.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS074003" }, { "coordinates": [ { "allele": "T", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523257.1:c.643G>T" ], "proteinEffect": { "hgvs": "XP_011521559.1:p.Glu215Ter", "hgvsWellDefined": "XP_011521559.1:p.Glu215_Leu872delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090396" }, { "coordinates": [ { "allele": "T", "end": 750, "referenceAllele": "G", "start": 749 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523258.1:c.643G>T" ], "proteinEffect": { "hgvs": "XP_011521560.1:p.Glu215Ter", "hgvsWellDefined": "XP_011521560.1:p.Glu215_Leu872delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090397" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523259.1:c.481G>T" ], "proteinEffect": { "hgvs": "XP_011521561.1:p.Glu161Ter", "hgvsWellDefined": "XP_011521561.1:p.Glu161_Leu818delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090398" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523260.1:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_011521562.1:p.Glu356Ter", "hgvsWellDefined": "XP_011521562.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090399" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523261.1:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_011521563.1:p.Glu356Ter", "hgvsWellDefined": "XP_011521563.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS090400" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XR_429725.2:n.1156G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118468" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XR_429726.2:n.1156G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118469" }, { "coordinates": [ { "allele": "T", "end": 1156, "referenceAllele": "G", "start": 1155 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XR_933387.1:n.1156G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS128979" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_005256084.4:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_005256141.1:p.Glu356Ter", "hgvsWellDefined": "XP_005256141.1:p.Glu356_Leu1013delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534384" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_006721242.4:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_006721305.1:p.Glu356Ter", "hgvsWellDefined": "XP_006721305.1:p.Glu356_Leu985delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540255" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_006721243.4:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_006721306.1:p.Glu356Ter", "hgvsWellDefined": "XP_006721306.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540256" }, { "coordinates": [ { "allele": "T", "end": 968, "referenceAllele": "G", "start": 967 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523259.2:c.481G>T" ], "proteinEffect": { "hgvs": "XP_011521561.1:p.Glu161Ter", "hgvsWellDefined": "XP_011521561.1:p.Glu161_Leu818delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546958" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523260.3:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_011521562.1:p.Glu356Ter", "hgvsWellDefined": "XP_011521562.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546959" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_011523261.2:c.1066G>T" ], "proteinEffect": { "hgvs": "XP_011521563.1:p.Glu356Ter", "hgvsWellDefined": "XP_011521563.1:p.Glu356_Leu793delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS546960" }, { "coordinates": [ { "allele": "T", "end": 2526, "referenceAllele": "G", "start": 2525 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_017023535.1:c.574G>T" ], "proteinEffect": { "hgvs": "XP_016879024.1:p.Glu192Ter", "hgvsWellDefined": "XP_016879024.1:p.Glu192_Leu849delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574279" }, { "coordinates": [ { "allele": "T", "end": 683, "referenceAllele": "G", "start": 682 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_017023536.1:c.481G>T" ], "proteinEffect": { "hgvs": "XP_016879025.1:p.Glu161Ter", "hgvsWellDefined": "XP_016879025.1:p.Glu161_Leu818delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574280" }, { "coordinates": [ { "allele": "T", "end": 577, "referenceAllele": "G", "start": 576 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_017023537.1:c.481G>T" ], "proteinEffect": { "hgvs": "XP_016879026.1:p.Glu161Ter", "hgvsWellDefined": "XP_016879026.1:p.Glu161_Leu818delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574281" }, { "coordinates": [ { "allele": "T", "end": 678, "referenceAllele": "G", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XM_017023538.1:c.481G>T" ], "proteinEffect": { "hgvs": "XP_016879027.1:p.Glu161Ter", "hgvsWellDefined": "XP_016879027.1:p.Glu161_Leu818delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS574282" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XR_429725.3:n.1109G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606701" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XR_429726.3:n.1109G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606702" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "G", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "XR_933387.2:n.1109G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610414" }, { "@id": "http://reg.genome.network/allele/PA2826835449", "coordinates": [ { "allele": "T", "end": 1182, "referenceAllele": "G", "start": 1181 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "NM_001293557.2:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_001280486.1:p.Glu356Ter", "hgvsWellDefined": "NP_001280486.1:p.Glu356_Leu1013delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682997" }, { "@id": "http://reg.genome.network/allele/PA2828432775", "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "NM_001370466.1:c.1066G>T" ], "proteinEffect": { "hgvs": "NP_001357395.1:p.Glu356Ter", "hgvsWellDefined": "NP_001357395.1:p.Glu356_Leu1013delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS692468", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000647318.2:c.1066G>T" }, "RefSeq": { "hgvs": "NM_001370466.1:c.1066G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000495993.1:p.Glu356Ter" }, "RefSeq": { "hgvs": "NP_001357395.1:p.Glu356Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580450835", "coordinates": [ { "allele": "T", "end": 1443, "referenceAllele": "G", "start": 1442 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "NM_022162.3:c.1147G>T" ], "proteinEffect": { "hgvs": "NP_071445.1:p.Glu383Ter", "hgvsWellDefined": "NP_071445.1:p.Glu383_Leu1040delinsPheLysPheArgPheThrAspArgGluArgHisCysSerProThrAspProThrSerValGlnThrLeuLeuPheAsnLeuLeuGlnGlyAsnLeuLeuLysAsnAlaArgLysValValThrSerArgProAlaAlaValSerAlaPheLeuArgLysTyrIleArgThrGluPheAsnLeuLysGlyPheSerGluGlnGlyIleGluLeuTyrLeuArgLysArgHisHisGluProGlyValAlaAspArgLeuIleArgLeuLeuGlnGluThrSerAlaLeuHisGlyLeuCysHisLeuProValPheSerTrpMetValSerLysCysHisGlnGluLeuLeuLeuGlnGluGlyGlySerProLysThrThrThrAspMetTyrLeuLeuIleLeuGlnHisPheLeuLeuHisAlaThrProProAspSerAlaSerGlnGlyLeuGlyProSerLeuLeuArgGlyArgLeuProThrLeuLeuHisLeuGlyArgLeuAlaLeuTrpGlyLeuGlyMetCysCysTyrValPheSerAlaGlnGlnLeuGlnAlaAlaGlnValSerProAspAspIleSerLeuGlyPheLeuValArgAlaLysGlyValValProGlySerThrAlaProLeuGluPheLeuHisIleThrPheGlnCysPhePheAlaAlaPheTyrLeuAlaLeuSerAlaAspValProProAlaLeuLeuArgHisLeuPheAsnCysGlyArgProGlyAsnSerProMetAlaArgLeuLeuProThrMetCysIleGlnAlaSerGluGlyLysAspSerSerValAlaAlaLeuLeuGlnLysAlaGluProHisAsnLeuGlnIleThrAlaAlaPheLeuAlaGlyLeuLeuSerArgGluHisTrpGlyLeuLeuAlaGluCysGlnThrSerGluLysAlaLeuLeuArgArgGlnAlaCysAlaArgTrpCysLeuAlaArgSerLeuArgLysHisPheHisSerIleProProAlaAlaProGlyGluAlaLysSerValHisAlaMetProGlyPheIleTrpLeuIleArgSerLeuTyrGluMetGlnGluGluArgLeuAlaArgLysAlaAlaArgGlyLeuAsnValGlyHisLeuLysLeuThrPheCysSerValGlyProThrGluCysAlaAlaLeuAlaPheValLeuGlnHisLeuArgArgProValAlaLeuGlnLeuAspTyrAsnSerValGlyAspIleGlyValGluGlnLeuLeuProCysLeuGlyValCysLysAlaLeuTyrLeuArgAspAsnAsnIleSerAspArgGlyIleCysLysLeuIleGluCysAlaLeuHisCysGluGlnLeuGlnLysLeuAlaLeuPheAsnAsnLysLeuThrAspGlyCysAlaHisSerMetAlaLysLeuLeuAlaCysArgGlnAsnPheLeuAlaLeuArgLeuGlyAsnAsnTyrIleThrAlaAlaGlyAlaGlnValLeuAlaGluGlyLeuArgGlyAsnThrSerLeuGlnPheLeuGlyPheTrpGlyAsnArgValGlyAspGluGlyAlaGlnAlaLeuAlaGluAlaLeuGlyAspHisGlnSerLeuArgTrpLeuSerLeuValGlyAsnAsnIleGlySerValGlyAlaGlnAlaLeuAlaLeuMetLeuAlaLysAsnValMetLeuGluGluLeuCysLeuGluGluAsnHisLeuGlnAspGluGlyValCysSerLeuAlaGluGlyLeuLysLysAsnSerSerLeuLysIleLeuLysLeuSerAsnAsnCysIleThrTyrLeuGlyAlaGluAlaLeuLeuGlnAlaLeuGluArgAsnAspThrIleLeuGluValTrpLeuArgGlyAsnThrPheSerLeuGluGluValAspLysLeuGlyCysArgAspThrArgLeuLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698520" }, { "coordinates": [ { "allele": "T", "end": 1131, "referenceAllele": "G", "start": 1130 } ], "gene": "http://reg.genome.network/gene/GN005331", "geneNCBI_id": 64127, "geneSymbol": "NOD2", "hgvs": [ "NR_163434.1:n.1131G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705559" } ], "type": "nucleotide" }