{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10582333", "communityStandardTitle": [ "NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1059633", "active": true, "id": "COSM1059633" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=239601[alleleid]", "alleleId": 239601, "preferredName": "NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236632", "RCV": [ "RCV000508240", "RCV002372241", "RCV003335275", "RCV003650534" ], "variationId": 236632 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112177901C>T?assembly=hg19", "id": "chr5:g.112177901C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.112842204C>T?assembly=hg38", "id": "chr5:g.112842204C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/752654519", "rs": 752654519 } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112842204, "referenceAllele": "C", "start": 112842203 } ], "hgvs": [ "NC_000005.10:g.112842204C>T", "CM000667.2:g.112842204C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112177901, "referenceAllele": "C", "start": 112177900 } ], "hgvs": [ "NC_000005.9:g.112177901C>T", "CM000667.1:g.112177901C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "T", "end": 112205800, "referenceAllele": "C", "start": 112205799 } ], "hgvs": [ "NC_000005.8:g.112205800C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 154684, "referenceAllele": "C", "start": 154683 } ], "hgvs": [ "NG_008481.4:g.154684C>T", "LRG_130:g.154684C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001117" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 6720, "referenceAllele": "C", "start": 6719 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000504915.3:c.6664C>T" ], "proteinEffect": { "hgvs": "ENSP00000473355.2:p.Arg2222Ter", "hgvsWellDefined": "ENSP00000473355.2:p.Arg2222_Val2861delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914183" }, { "coordinates": [ { "allele": "T", "end": 6990, "referenceAllele": "C", "start": 6989 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000505350.2:c.*6616C>T" ], "proteinEffect": { "hgvs": "ENSP00000481752.1:n.*6616C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914185" }, { "coordinates": [ { "allele": "T", "end": 6752, "referenceAllele": "C", "start": 6751 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000507379.6:c.6556C>T" ], "proteinEffect": { "hgvs": "ENSP00000423224.2:p.Arg2186Ter", "hgvsWellDefined": "ENSP00000423224.2:p.Arg2186_Val2825delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914189" }, { "coordinates": [ { "allele": "T", "end": 6760, "referenceAllele": "C", "start": 6759 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000509732.6:c.6610C>T" ], "proteinEffect": { "hgvs": "ENSP00000426541.2:p.Arg2204Ter", "hgvsWellDefined": "ENSP00000426541.2:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914195" }, { "coordinates": [ { "allele": "T", "end": 6961, "referenceAllele": "C", "start": 6960 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000512211.7:c.6610C>T" ], "proteinEffect": { "hgvs": "ENSP00000423828.3:p.Arg2204Ter", "hgvsWellDefined": "ENSP00000423828.3:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914202" }, { "coordinates": [ { "allele": "T", "end": 6669, "referenceAllele": "C", "start": 6668 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.9:c.6610C>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg2204Ter", "hgvsWellDefined": "ENSP00000257430.4:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS741831", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6610C>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6610C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg2204Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg2204Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 6666, "referenceAllele": "C", "start": 6665 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000257430.8:c.6610C>T" ], "proteinEffect": { "hgvs": "ENSP00000257430.4:p.Arg2204Ter", "hgvsWellDefined": "ENSP00000257430.4:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247400" }, { "coordinates": [ { "allele": "T", "end": 6767, "referenceAllele": "C", "start": 6766 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508376.6:c.6610C>T" ], "proteinEffect": { "hgvs": "ENSP00000427089.2:p.Arg2204Ter", "hgvsWellDefined": "ENSP00000427089.2:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS247198" }, { "coordinates": [ { "allele": "T", "end": 6855, "referenceAllele": "C", "start": 6854 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "ENST00000508624.5:c.*5932C>T" ], "proteinEffect": { "hgvs": "ENSP00000424265.1:n.*5932C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS339602" }, { "coordinates": [ { "allele": "T", "end": 230, "endIntronDirection": "+", "endIntronOffset": 13232, "referenceAllele": "C", "start": 230, "startIntronDirection": "+", "startIntronOffset": 13231 } ], "hgvs": [ "ENST00000520401.1:c.230+13232C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS347453" }, { "@id": "http://reg.genome.network/allele/PA16040084", "coordinates": [ { "allele": "T", "end": 6695, "referenceAllele": "C", "start": 6694 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.5:c.6610C>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg2204Ter", "hgvsWellDefined": "NP_000029.2:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006103" }, { "@id": "http://reg.genome.network/allele/PA645510112", "coordinates": [ { "allele": "T", "end": 6803, "referenceAllele": "C", "start": 6802 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.2:c.6610C>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg2204Ter", "hgvsWellDefined": "NP_001120982.1:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011634" }, { "@id": "http://reg.genome.network/allele/PA2825643411", "coordinates": [ { "allele": "T", "end": 6769, "referenceAllele": "C", "start": 6768 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.2:c.6556C>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg2186Ter", "hgvsWellDefined": "NP_001120983.2:p.Arg2186_Val2825delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011635" }, { "@id": "http://reg.genome.network/allele/PA2827946534", "coordinates": [ { "allele": "T", "end": 7006, "referenceAllele": "C", "start": 7005 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.1:c.6610C>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg2204Ter", "hgvsWellDefined": "NP_001341824.1:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522733" }, { "@id": "http://reg.genome.network/allele/PA916041098", "coordinates": [ { "allele": "T", "end": 6749, "referenceAllele": "C", "start": 6748 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.1:c.6664C>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg2222Ter", "hgvsWellDefined": "NP_001341825.1:p.Arg2222_Val2861delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522734" }, { "@id": "http://reg.genome.network/allele/PA2827961223", "coordinates": [ { "allele": "T", "end": 6853, "referenceAllele": "C", "start": 6852 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.1:c.6640C>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg2214Ter", "hgvsWellDefined": "NP_001341826.1:p.Arg2214_Val2853delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522735" }, { "@id": "http://reg.genome.network/allele/PA2827970360", "coordinates": [ { "allele": "T", "end": 6650, "referenceAllele": "C", "start": 6649 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.1:c.6535C>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg2179Ter", "hgvsWellDefined": "NP_001341827.1:p.Arg2179_Val2818delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522736" }, { "@id": "http://reg.genome.network/allele/PA2827979533", "coordinates": [ { "allele": "T", "end": 6611, "referenceAllele": "C", "start": 6610 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.1:c.6526C>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg2176Ter", "hgvsWellDefined": "NP_001341828.1:p.Arg2176_Val2815delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522737" }, { "@id": "http://reg.genome.network/allele/PA2827988612", "coordinates": [ { "allele": "T", "end": 6596, "referenceAllele": "C", "start": 6595 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.1:c.6487C>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg2163Ter", "hgvsWellDefined": "NP_001341829.1:p.Arg2163_Val2802delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522738" }, { "@id": "http://reg.genome.network/allele/PA2827997675", "coordinates": [ { "allele": "T", "end": 6542, "referenceAllele": "C", "start": 6541 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.1:c.6433C>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg2145Ter", "hgvsWellDefined": "NP_001341830.1:p.Arg2145_Val2784delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522739" }, { "@id": "http://reg.genome.network/allele/PA2828003671", "coordinates": [ { "allele": "T", "end": 6550, "referenceAllele": "C", "start": 6549 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.1:c.6337C>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg2113Ter", "hgvsWellDefined": "NP_001341831.1:p.Arg2113_Val2752delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522740" }, { "@id": "http://reg.genome.network/allele/PA2828026670", "coordinates": [ { "allele": "T", "end": 6392, "referenceAllele": "C", "start": 6391 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.1:c.6307C>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg2103Ter", "hgvsWellDefined": "NP_001341832.1:p.Arg2103_Val2742delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522741" }, { "@id": "http://reg.genome.network/allele/PA2828046036", "coordinates": [ { "allele": "T", "end": 6347, "referenceAllele": "C", "start": 6346 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.1:c.6232C>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg2078Ter", "hgvsWellDefined": "NP_001341833.1:p.Arg2078_Val2717delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522742" }, { "@id": "http://reg.genome.network/allele/PA2828010386", "coordinates": [ { "allele": "T", "end": 6239, "referenceAllele": "C", "start": 6238 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.1:c.6130C>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg2044Ter", "hgvsWellDefined": "NP_001341834.1:p.Arg2044_Val2683delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522743" }, { "@id": "http://reg.genome.network/allele/PA2828026382", "coordinates": [ { "allele": "T", "end": 6881, "referenceAllele": "C", "start": 6880 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.1:c.5761C>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg1921Ter", "hgvsWellDefined": "NP_001341835.1:p.Arg1921_Val2560delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522744" }, { "@id": "http://reg.genome.network/allele/PA16040084", "coordinates": [ { "allele": "T", "end": 6669, "referenceAllele": "C", "start": 6668 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_000038.6:c.6610C>T" ], "proteinEffect": { "hgvs": "NP_000029.2:p.Arg2204Ter", "hgvsWellDefined": "NP_000029.2:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662295", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000257430.9:c.6610C>T" }, "RefSeq": { "hgvs": "NM_000038.6:c.6610C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000257430.4:p.Arg2204Ter" }, "RefSeq": { "hgvs": "NP_000029.2:p.Arg2204Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645510112", "coordinates": [ { "allele": "T", "end": 6777, "referenceAllele": "C", "start": 6776 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127510.3:c.6610C>T" ], "proteinEffect": { "hgvs": "NP_001120982.1:p.Arg2204Ter", "hgvsWellDefined": "NP_001120982.1:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676902" }, { "@id": "http://reg.genome.network/allele/PA2825643411", "coordinates": [ { "allele": "T", "end": 6776, "referenceAllele": "C", "start": 6775 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001127511.3:c.6556C>T" ], "proteinEffect": { "hgvs": "NP_001120983.2:p.Arg2186Ter", "hgvsWellDefined": "NP_001120983.2:p.Arg2186_Val2825delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676903" }, { "@id": "http://reg.genome.network/allele/PA2827946534", "coordinates": [ { "allele": "T", "end": 7013, "referenceAllele": "C", "start": 7012 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354895.2:c.6610C>T" ], "proteinEffect": { "hgvs": "NP_001341824.1:p.Arg2204Ter", "hgvsWellDefined": "NP_001341824.1:p.Arg2204_Val2843delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690347" }, { "@id": "http://reg.genome.network/allele/PA916041098", "coordinates": [ { "allele": "T", "end": 6723, "referenceAllele": "C", "start": 6722 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354896.2:c.6664C>T" ], "proteinEffect": { "hgvs": "NP_001341825.1:p.Arg2222Ter", "hgvsWellDefined": "NP_001341825.1:p.Arg2222_Val2861delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690348" }, { "@id": "http://reg.genome.network/allele/PA2827961223", "coordinates": [ { "allele": "T", "end": 6860, "referenceAllele": "C", "start": 6859 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354897.2:c.6640C>T" ], "proteinEffect": { "hgvs": "NP_001341826.1:p.Arg2214Ter", "hgvsWellDefined": "NP_001341826.1:p.Arg2214_Val2853delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690349" }, { "@id": "http://reg.genome.network/allele/PA2827970360", "coordinates": [ { "allele": "T", "end": 6624, "referenceAllele": "C", "start": 6623 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354898.2:c.6535C>T" ], "proteinEffect": { "hgvs": "NP_001341827.1:p.Arg2179Ter", "hgvsWellDefined": "NP_001341827.1:p.Arg2179_Val2818delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690350" }, { "@id": "http://reg.genome.network/allele/PA2827979533", "coordinates": [ { "allele": "T", "end": 6585, "referenceAllele": "C", "start": 6584 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354899.2:c.6526C>T" ], "proteinEffect": { "hgvs": "NP_001341828.1:p.Arg2176Ter", "hgvsWellDefined": "NP_001341828.1:p.Arg2176_Val2815delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690351" }, { "@id": "http://reg.genome.network/allele/PA2827988612", "coordinates": [ { "allele": "T", "end": 6570, "referenceAllele": "C", "start": 6569 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354900.2:c.6487C>T" ], "proteinEffect": { "hgvs": "NP_001341829.1:p.Arg2163Ter", "hgvsWellDefined": "NP_001341829.1:p.Arg2163_Val2802delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690352" }, { "@id": "http://reg.genome.network/allele/PA2827997675", "coordinates": [ { "allele": "T", "end": 6516, "referenceAllele": "C", "start": 6515 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354901.2:c.6433C>T" ], "proteinEffect": { "hgvs": "NP_001341830.1:p.Arg2145Ter", "hgvsWellDefined": "NP_001341830.1:p.Arg2145_Val2784delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690353" }, { "@id": "http://reg.genome.network/allele/PA2828003671", "coordinates": [ { "allele": "T", "end": 6557, "referenceAllele": "C", "start": 6556 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354902.2:c.6337C>T" ], "proteinEffect": { "hgvs": "NP_001341831.1:p.Arg2113Ter", "hgvsWellDefined": "NP_001341831.1:p.Arg2113_Val2752delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690354" }, { "@id": "http://reg.genome.network/allele/PA2828026670", "coordinates": [ { "allele": "T", "end": 6366, "referenceAllele": "C", "start": 6365 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354903.2:c.6307C>T" ], "proteinEffect": { "hgvs": "NP_001341832.1:p.Arg2103Ter", "hgvsWellDefined": "NP_001341832.1:p.Arg2103_Val2742delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690355" }, { "@id": "http://reg.genome.network/allele/PA2828046036", "coordinates": [ { "allele": "T", "end": 6321, "referenceAllele": "C", "start": 6320 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354904.2:c.6232C>T" ], "proteinEffect": { "hgvs": "NP_001341833.1:p.Arg2078Ter", "hgvsWellDefined": "NP_001341833.1:p.Arg2078_Val2717delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690356" }, { "@id": "http://reg.genome.network/allele/PA2828010386", "coordinates": [ { "allele": "T", "end": 6213, "referenceAllele": "C", "start": 6212 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354905.2:c.6130C>T" ], "proteinEffect": { "hgvs": "NP_001341834.1:p.Arg2044Ter", "hgvsWellDefined": "NP_001341834.1:p.Arg2044_Val2683delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690357" }, { "@id": "http://reg.genome.network/allele/PA2828026382", "coordinates": [ { "allele": "T", "end": 6855, "referenceAllele": "C", "start": 6854 } ], "gene": "http://reg.genome.network/gene/GN000583", "geneNCBI_id": 324, "geneSymbol": "APC", "hgvs": [ "NM_001354906.2:c.5761C>T" ], "proteinEffect": { "hgvs": "NP_001341835.1:p.Arg1921Ter", "hgvsWellDefined": "NP_001341835.1:p.Arg1921_Val2560delinsSerAsnSerGluIleSerGlyGlnMetLysGlnProLeuGlnAlaAsnMetProSerIleSerArgGlyArgThrMetIleHisIleProGlyValArgAsnSerSerSerSerThrSerProValSerLysLysGlyProProLeuLysThrProAlaSerLysSerProSerGluGlyGlnThrAlaThrThrSerProArgGlyAlaLysProSerValLysSerGluLeuSerProValAlaArgGlnThrSerGlnIleGlyGlySerSerLysAlaProSerArgSerGlySerArgAspSerThrProSerArgProAlaGlnGlnProLeuSerArgProIleGlnSerProGlyArgAsnSerIleSerProGlyArgAsnGlyIleSerProProAsnLysLeuSerGlnLeuProArgThrSerSerProSerThrAlaSerThrLysSerSerGlySerGlyLysMetSerTyrThrSerProGlyArgGlnMetSerGlnGlnAsnLeuThrLysGlnThrGlyLeuSerLysAsnAlaSerSerIleProArgSerGluSerAlaSerLysGlyLeuAsnGlnMetAsnAsnGlyAsnGlyAlaAsnLysLysValGluLeuSerArgMetSerSerThrLysSerSerGlySerGluSerAspArgSerGluArgProValLeuValArgGlnSerThrPheIleLysGluAlaProSerProThrLeuArgArgLysLeuGluGluSerAlaSerPheGluSerLeuSerProSerSerArgProAlaSerProThrArgSerGlnAlaGlnThrProValLeuSerProSerLeuProAspMetSerLeuSerThrHisSerSerValGlnAlaGlyGlyTrpArgLysLeuProProAsnLeuSerProThrIleGluTyrAsnAspGlyArgProAlaLysArgHisAspIleAlaArgSerHisSerGluSerProSerArgLeuProIleAsnArgSerGlyThrTrpLysArgGluHisSerLysHisSerSerSerLeuProArgValSerThrTrpArgArgThrGlySerSerSerSerIleLeuSerAlaSerSerGluSerSerGluLysAlaLysSerGluAspGluLysHisValAsnSerIleSerGlyThrLysGlnSerLysGluAsnGlnValSerAlaLysGlyThrTrpArgLysIleLysGluAsnGluPheSerProThrAsnSerThrSerGlnThrValSerSerGlyAlaThrAsnGlyAlaGluSerLysThrLeuIleTyrGlnMetAlaProAlaValSerLysThrGluAspValTrpValArgIleGluAspCysProIleAsnAsnProArgSerGlyArgSerProThrGlyAsnThrProProValIleAspSerValSerGluLysAlaAsnProAsnIleLysAspSerLysAspAsnGlnAlaLysGlnAsnValGlyAsnGlySerValProMetArgThrValGlyLeuGluAsnArgLeuAsnSerPheIleGlnValAspAlaProAspGlnLysGlyThrGluIleLysProGlyGlnAsnAsnProValProValSerGluThrAsnGluSerSerIleValGluArgThrProPheSerSerSerSerSerSerLysHisSerSerProSerGlyThrValAlaAlaArgValThrProPheAsnTyrAsnProSerProArgLysSerSerAlaAspSerThrSerAlaArgProSerGlnIleProThrProValAsnAsnAsnThrLysLysArgAspSerLysThrAspSerThrGluSerSerGlyThrGlnSerProLysArgHisSerGlySerTyrLeuValThrSerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690358" } ], "type": "nucleotide" }