{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16043152", "communityStandardTitle": [ "NM_001083962.2(TCF4):c.1037C>G (p.Ser346Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360490[alleleid]", "alleleId": 360490, "preferredName": "NM_001083962.2(TCF4):c.1037C>G (p.Ser346Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/373305", "RCV": [ "RCV000413573" ], "variationId": 373305 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.52927212G>C?assembly=hg19", "id": "chr18:g.52927212G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.55259981G>C?assembly=hg38", "id": "chr18:g.55259981G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518339", "rs": 1057518339 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "C", "end": 55259981, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763407" }, { "coordinates": [ { "allele": "G", "end": 1216, "referenceAllele": "C", "start": 1215 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637115.2:c.*927C>G" ], "proteinEffect": { "hgvs": "ENSP00000490234.1:n.*927C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS763626" }, { "coordinates": [ { "allele": "G", "end": 874, "referenceAllele": "C", "start": 873 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637169.2:c.389C>G" ], "proteinEffect": { "hgvs": "ENSP00000490832.1:p.Ser130Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS763662" }, { "coordinates": [ { "allele": "G", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637239.2:n.1104C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763719" }, { "coordinates": [ { "allele": "G", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637250.2:n.731C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS763727" }, { "coordinates": [ { "allele": "G", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000637923.2:c.635C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS764212" }, { "coordinates": [ { "allele": "G", "end": 1270, "referenceAllele": "C", "start": 1269 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000638154.3:c.1067C>G" ], "proteinEffect": { "hgvs": "ENSP00000490625.2:p.Ser356Ter", "hgvsWellDefined": "ENSP00000490625.2:p.Ser356_Met680delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS764384" }, { "coordinates": [ { "allele": "G", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000643689.1:c.647C>G" ], "proteinEffect": { "hgvs": "ENSP00000494380.1:p.Ser216Ter", "hgvsWellDefined": "ENSP00000494380.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767412" }, { "coordinates": [ { "allele": "G", "end": 930, "referenceAllele": "C", "start": 929 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000674764.1:c.*648C>G" ], "proteinEffect": { "hgvs": "ENSP00000502213.1:n.*648C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774681" }, { "coordinates": [ { "allele": "G", "end": 777, "referenceAllele": "C", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000675707.1:c.647C>G" ], "proteinEffect": { "hgvs": "ENSP00000501758.1:p.Ser216Ter", "hgvsWellDefined": "ENSP00000501758.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS775490" }, { "coordinates": [ { "allele": "G", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000354452.7:c.1037C>G" ], "proteinEffect": { "hgvs": "ENSP00000346440.3:p.Ser346Ter", "hgvsWellDefined": "ENSP00000346440.3:p.Ser346_Met671delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263131" }, { "coordinates": [ { "allele": "G", "end": 1649, "referenceAllele": "C", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000356073.8:c.1037C>G" ], "proteinEffect": { "hgvs": "ENSP00000348374.4:p.Ser346Ter", "hgvsWellDefined": "ENSP00000348374.4:p.Ser346_Met667delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263636" }, { "coordinates": [ { "allele": "G", "end": 1473, "referenceAllele": "C", "start": 1472 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000398339.5:c.1343C>G" ], "proteinEffect": { "hgvs": "ENSP00000381382.1:p.Ser448Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS278231" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "C", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000457482.7:c.557C>G" ], "proteinEffect": { "hgvs": "ENSP00000409447.2:p.Ser186Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS303973" }, { "coordinates": [ { "allele": "G", "end": 1505, "referenceAllele": "C", "start": 1504 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537578.5:c.965C>G" ], "proteinEffect": { "hgvs": "ENSP00000440731.1:p.Ser322Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS360846" }, { "coordinates": [ { "allele": "G", "end": 843, "referenceAllele": "C", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000537856.7:c.647C>G" ], "proteinEffect": { "hgvs": "ENSP00000439827.2:p.Ser216Ter", "hgvsWellDefined": "ENSP00000439827.2:p.Ser216_Met537delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS360997" }, { "coordinates": [ { "allele": "G", "end": 1260, "referenceAllele": "C", "start": 1259 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000540999.5:c.965C>G" ], "proteinEffect": { "hgvs": "ENSP00000445202.1:p.Ser322Ter", "hgvsWellDefined": "ENSP00000445202.1:p.Ser322_Met643delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS362707" }, { "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000543082.5:c.911C>G" ], "proteinEffect": { "hgvs": "ENSP00000439656.1:p.Ser304Ter", "hgvsWellDefined": "ENSP00000439656.1:p.Ser304_Met625delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS363812" }, { "coordinates": [ { "allele": "G", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000544241.6:c.824C>G" ], "proteinEffect": { "hgvs": "ENSP00000441562.2:p.Ser275Ter", "hgvsWellDefined": "ENSP00000441562.2:p.Ser275_Met600delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS364455" }, { "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561831.7:c.557C>G" ], "proteinEffect": { "hgvs": "ENSP00000457765.1:p.Ser186Ter", "hgvsWellDefined": "ENSP00000457765.1:p.Ser186_Met507delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS376381" }, { "coordinates": [ { "allele": "G", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000561992.5:c.647C>G" ], "proteinEffect": { "hgvs": "ENSP00000455179.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS376488" }, { "coordinates": [ { "allele": "G", "end": 1128, "referenceAllele": "C", "start": 1127 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000562680.5:n.1128C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS376940" }, { "coordinates": [ { "allele": "G", "end": 582, "endIntronDirection": "+", "endIntronOffset": 1485, "referenceAllele": "C", "start": 582, "startIntronDirection": "+", "startIntronOffset": 1484 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000563760.5:n.582+1485C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS377634" }, { "coordinates": [ { "allele": "G", "end": 824, "referenceAllele": "C", "start": 823 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564228.5:c.824C>G" ], "proteinEffect": { "hgvs": "ENSP00000455261.1:p.Ser275Ter", "hgvsWellDefined": "ENSP00000455261.1:p.Ser275_Met596delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS377953" }, { "coordinates": [ { "allele": "G", "end": 1618, "referenceAllele": "C", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564403.6:c.1055C>G" ], "proteinEffect": { "hgvs": "ENSP00000457263.1:p.Ser352Ter", "hgvsWellDefined": "ENSP00000457263.1:p.Ser352_Met677delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS378069" }, { "coordinates": [ { "allele": "G", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000564999.5:c.1037C>G" ], "proteinEffect": { "hgvs": "ENSP00000457649.1:p.Ser346Ter", "hgvsWellDefined": "ENSP00000457649.1:p.Ser346_Met667delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" 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"ENSP00000486670.1:p.Ser346_Met671delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407217" }, { "coordinates": [ { "allele": "G", "end": 630, "referenceAllele": "C", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "ENST00000630720.2:c.557C>G" ], "proteinEffect": { "hgvs": "ENSP00000487218.1:p.Ser186Ter", "hgvsWellDefined": "ENSP00000487218.1:p.Ser186_Gln315del" }, "referenceSequence": "http://reg.genome.network/refseq/RS407409" }, { "@id": "http://reg.genome.network/allele/PA645449825", "coordinates": [ { "allele": "G", "end": 1649, "referenceAllele": "C", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.1:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Ser346Ter", "hgvsWellDefined": "NP_001077431.1:p.Ser346_Met671delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS010431" }, { "@id": "http://reg.genome.network/allele/PA916006188", "coordinates": [ { "allele": "G", "end": 1439, "referenceAllele": "C", "start": 1438 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.2:c.1343C>G" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Ser448Ter", "hgvsWellDefined": "NP_001230155.2:p.Ser448_Met773delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018449" }, { "@id": "http://reg.genome.network/allele/PA2826319586", "coordinates": [ { "allele": "G", "end": 1483, "referenceAllele": "C", "start": 1482 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Ser322Ter", "hgvsWellDefined": "NP_001230156.1:p.Ser322_Met647delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018450" }, { "@id": "http://reg.genome.network/allele/PA2826320097", "coordinates": [ { "allele": "G", "end": 1593, "referenceAllele": "C", "start": 1592 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.1:c.1055C>G" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Ser352Ter", "hgvsWellDefined": "NP_001230157.1:p.Ser352_Met677delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018451" }, { "@id": "http://reg.genome.network/allele/PA2826320600", "coordinates": [ { "allele": "G", "end": 1125, "referenceAllele": "C", "start": 1124 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.1:c.1031C>G" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Ser344Ter", "hgvsWellDefined": "NP_001230159.1:p.Ser344_Met664delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018452" }, { "@id": "http://reg.genome.network/allele/PA2826321085", "coordinates": [ { "allele": "G", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.1:c.911C>G" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Ser304Ter", "hgvsWellDefined": "NP_001230160.1:p.Ser304_Met625delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018453" }, { "@id": "http://reg.genome.network/allele/PA2826321532", "coordinates": [ { "allele": "G", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243232.1:c.824C>G" ], "proteinEffect": { "hgvs": "NP_001230161.1:p.Ser275Ter", "hgvsWellDefined": "NP_001230161.1:p.Ser275_Met600delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018454" }, { "@id": "http://reg.genome.network/allele/PA2826321951", "coordinates": [ { "allele": "G", "end": 1046, "referenceAllele": "C", "start": 1045 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.1:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Ser216Ter", "hgvsWellDefined": "NP_001230162.1:p.Ser216_Met537delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018455" }, { "@id": "http://reg.genome.network/allele/PA2826322331", "coordinates": [ { "allele": "G", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.1:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Ser186Ter", "hgvsWellDefined": "NP_001230163.1:p.Ser186_Met511delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018456" }, { "@id": "http://reg.genome.network/allele/PA2826322712", "coordinates": [ { "allele": "G", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.1:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Ser186Ter", "hgvsWellDefined": "NP_001230164.1:p.Ser186_Met507delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018457" }, { "@id": "http://reg.genome.network/allele/PA2826323091", "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.1:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Ser186Ter", "hgvsWellDefined": "NP_001230165.1:p.Ser186_Met507delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS018458" }, { "@id": "http://reg.genome.network/allele/PA2826916095", "coordinates": [ { "allele": "G", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001306207.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001293136.1:p.Ser322Ter", "hgvsWellDefined": "NP_001293136.1:p.Ser322_Met643delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS065167" }, { "coordinates": [ { "allele": "G", "end": 1572, "referenceAllele": "C", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.2:c.1037C>G" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Ser346Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS074600" }, { "coordinates": [ { "allele": "G", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722537.2:c.1037C>G" ], "proteinEffect": { "hgvs": "XP_006722600.1:p.Ser346Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS074601" }, { "coordinates": [ { "allele": "G", "end": 1227, "referenceAllele": "C", "start": 1226 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722538.2:c.962C>G" ], "proteinEffect": { "hgvs": "XP_006722601.1:p.Ser321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS074602" }, { "coordinates": [ { "allele": "G", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722539.2:c.647C>G" ], "proteinEffect": { "hgvs": "XP_006722602.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS074603" }, { "coordinates": [ { "allele": "G", "end": 776, "referenceAllele": "C", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722540.2:c.647C>G" ], "proteinEffect": { "hgvs": "XP_006722603.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS074604" }, { "coordinates": [ { "allele": "G", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526154.1:c.1340C>G" ], "proteinEffect": { "hgvs": "XP_011524456.1:p.Ser447Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093261" }, { "coordinates": [ { "allele": "G", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526155.1:c.1343C>G" ], "proteinEffect": { "hgvs": "XP_011524457.1:p.Ser448Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093262" }, { "coordinates": [ { "allele": "G", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526156.1:c.1343C>G" ], "proteinEffect": { "hgvs": "XP_011524458.1:p.Ser448Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093263" }, { "coordinates": [ { "allele": "G", "end": 1400, "referenceAllele": "C", "start": 1399 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526157.1:c.1340C>G" ], "proteinEffect": { "hgvs": "XP_011524459.1:p.Ser447Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093264" }, { "coordinates": [ { "allele": "G", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526158.1:c.1031C>G" ], "proteinEffect": { "hgvs": "XP_011524460.1:p.Ser344Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093265" }, { "coordinates": [ { "allele": "G", "end": 892, "referenceAllele": "C", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526159.1:c.647C>G" ], "proteinEffect": { "hgvs": "XP_011524461.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093266" }, { "coordinates": [ { "allele": "G", "end": 1188, "referenceAllele": "C", "start": 1187 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526160.1:c.647C>G" ], "proteinEffect": { "hgvs": "XP_011524462.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS093267" }, { "coordinates": [ { "allele": "G", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526161.1:c.647C>G" ], "proteinEffect": { "hgvs": "XP_011524463.1:p.Ser216Ter", "hgvsWellDefined": "XP_011524463.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093268" }, { "coordinates": [ { "allele": "G", "end": 866, "referenceAllele": "C", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526162.1:c.647C>G" ], "proteinEffect": { "hgvs": "XP_011524464.1:p.Ser216Ter", "hgvsWellDefined": "XP_011524464.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093269" }, { "coordinates": [ { "allele": "G", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526163.1:c.647C>G" ], "proteinEffect": { "hgvs": "XP_011524465.1:p.Ser216Ter", "hgvsWellDefined": "XP_011524465.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093270" }, { "coordinates": [ { "allele": "G", "end": 849, "referenceAllele": "C", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_011526164.1:c.647C>G" ], "proteinEffect": { "hgvs": "XP_011524466.1:p.Ser216Ter", "hgvsWellDefined": "XP_011524466.1:p.Ser216_Met537delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS093271" }, { "@id": "http://reg.genome.network/allele/PA2827335313", "coordinates": [ { "allele": "G", "end": 1649, "referenceAllele": "C", "start": 1648 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.2:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Ser346Ter", "hgvsWellDefined": "NP_001317533.1:p.Ser346_Met670delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516949" }, { "@id": "http://reg.genome.network/allele/PA2827335734", "coordinates": [ { "allele": "G", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.2:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Ser216Ter", "hgvsWellDefined": "NP_001317534.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS516950" }, { "@id": "http://reg.genome.network/allele/PA2827430736", "coordinates": [ { "allele": "G", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.1:c.911C>G" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Ser304Ter", "hgvsWellDefined": "NP_001335140.1:p.Ser304_Met629delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518066" }, { "@id": "http://reg.genome.network/allele/PA2827431157", "coordinates": [ { "allele": "G", "end": 1031, "referenceAllele": "C", "start": 1030 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.1:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS518067" }, { "@id": "http://reg.genome.network/allele/PA2827431546", "coordinates": [ { "allele": "G", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.1:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Ser216Ter", "hgvsWellDefined": "NP_001335142.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518068" }, { "@id": "http://reg.genome.network/allele/PA2827431923", "coordinates": [ { "allele": "G", "end": 678, "referenceAllele": "C", "start": 677 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.1:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Ser186Ter", "hgvsWellDefined": "NP_001335143.1:p.Ser186_Met506delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518069" }, { "@id": "http://reg.genome.network/allele/PA2827432243", "coordinates": [ { "allele": "G", "end": 632, "referenceAllele": "C", "start": 631 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.1:c.389C>G" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Ser130Ter", "hgvsWellDefined": "NP_001335144.1:p.Ser130_Met455delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518070" }, { "@id": "http://reg.genome.network/allele/PA2827432602", "coordinates": [ { "allele": "G", "end": 699, "referenceAllele": "C", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.1:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Ser186Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS518071" }, { "@id": "http://reg.genome.network/allele/PA2827433106", "coordinates": [ { "allele": "G", "end": 1274, "referenceAllele": "C", "start": 1273 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348217.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001335146.1:p.Ser322Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS518072" }, { "@id": "http://reg.genome.network/allele/PA2827433608", "coordinates": [ { "allele": "G", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Ser322Ter", "hgvsWellDefined": "NP_001335147.1:p.Ser322_Met647delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS518073" }, { "@id": "http://reg.genome.network/allele/PA2827434109", "coordinates": [ { "allele": "G", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Ser322Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS518074" }, { "@id": "http://reg.genome.network/allele/PA2827434609", "coordinates": [ { "allele": "G", "end": 1271, "referenceAllele": "C", "start": 1270 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348220.1:c.962C>G" ], "proteinEffect": { "hgvs": "NP_001335149.1:p.Ser321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS518075" }, { "coordinates": [ { "allele": "G", "end": 1289, "referenceAllele": "C", "start": 1288 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266739.4:c.965C>G" ], "proteinEffect": { "hgvs": "XP_005266796.2:p.Ser322Ter", "hgvsWellDefined": "XP_005266796.2:p.Ser322_Met647delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536280" }, { "coordinates": [ { "allele": "G", "end": 1249, "referenceAllele": "C", "start": 1248 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266741.4:c.1034C>G" ], "proteinEffect": { "hgvs": "XP_005266798.1:p.Ser345Ter", "hgvsWellDefined": "XP_005266798.1:p.Ser345_Met670delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536281" }, { "coordinates": [ { "allele": "G", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266745.4:c.962C>G" ], "proteinEffect": { "hgvs": "XP_005266802.1:p.Ser321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS536282" }, { "coordinates": [ { "allele": "G", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266749.4:c.827C>G" ], "proteinEffect": { "hgvs": "XP_005266806.1:p.Ser276Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS536283" }, { "coordinates": [ { "allele": "G", "end": 1448, "referenceAllele": "C", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266752.5:c.647C>G" ], "proteinEffect": { "hgvs": "XP_005266809.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS536284" }, { "coordinates": [ { "allele": "G", "end": 905, "referenceAllele": "C", "start": 904 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266755.5:c.647C>G" ], "proteinEffect": { "hgvs": "XP_005266812.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS536285" }, { "coordinates": [ { "allele": "G", "end": 1238, "referenceAllele": "C", "start": 1237 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_005266761.4:c.557C>G" ], "proteinEffect": { "hgvs": "XP_005266818.1:p.Ser186Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS536286" }, { "coordinates": [ { "allele": "G", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_006722536.3:c.1037C>G" ], "proteinEffect": { "hgvs": "XP_006722599.1:p.Ser346Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576168" }, { "coordinates": [ { "allele": "G", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025937.2:c.962C>G" ], "proteinEffect": { "hgvs": "XP_016881426.1:p.Ser321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576170" }, { "coordinates": [ { "allele": "G", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025940.2:c.1037C>G" ], "proteinEffect": { "hgvs": "XP_016881429.1:p.Ser346Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576175" }, { "coordinates": [ { "allele": "G", "end": 1514, "referenceAllele": "C", "start": 1513 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025945.2:c.965C>G" ], "proteinEffect": { "hgvs": "XP_016881434.1:p.Ser322Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576176" }, { "coordinates": [ { "allele": "G", "end": 1524, "referenceAllele": "C", "start": 1523 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025946.2:c.965C>G" ], "proteinEffect": { "hgvs": "XP_016881435.1:p.Ser322Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576177" }, { "coordinates": [ { "allele": "G", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025948.2:c.962C>G" ], "proteinEffect": { "hgvs": "XP_016881437.1:p.Ser321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576178" }, { "coordinates": [ { "allele": "G", "end": 1511, "referenceAllele": "C", "start": 1510 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025950.2:c.962C>G" ], "proteinEffect": { "hgvs": "XP_016881439.1:p.Ser321Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576179" }, { "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025951.2:c.911C>G" ], "proteinEffect": { "hgvs": "XP_016881440.1:p.Ser304Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576180" }, { "coordinates": [ { "allele": "G", "end": 1100, "referenceAllele": "C", "start": 1099 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025952.2:c.824C>G" ], "proteinEffect": { "hgvs": "XP_016881441.1:p.Ser275Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576181" }, { "coordinates": [ { "allele": "G", "end": 877, "referenceAllele": "C", "start": 876 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025953.2:c.827C>G" ], "proteinEffect": { "hgvs": "XP_016881442.1:p.Ser276Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576182" }, { "coordinates": [ { "allele": "G", "end": 1461, "referenceAllele": "C", "start": 1460 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025954.2:c.647C>G" ], "proteinEffect": { "hgvs": "XP_016881443.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576183" }, { "coordinates": [ { "allele": "G", "end": 871, "referenceAllele": "C", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_017025956.2:c.647C>G" ], "proteinEffect": { "hgvs": "XP_016881445.1:p.Ser216Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS576184" }, { "coordinates": [ { "allele": "G", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451240.1:c.965C>G" ], "proteinEffect": { "hgvs": "XP_024307008.1:p.Ser322Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS584759" }, { "coordinates": [ { "allele": "G", "end": 903, "referenceAllele": "C", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "XM_024451241.1:c.800C>G" ], "proteinEffect": { "hgvs": "XP_024307009.1:p.Ser267Ter", "hgvsWellDefined": "XP_024307009.1:p.Ser267_Met592delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584760" }, { "@id": "http://reg.genome.network/allele/PA645449825", "coordinates": [ { "allele": "G", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001083962.2:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001077431.1:p.Ser346Ter", "hgvsWellDefined": "NP_001077431.1:p.Ser346_Met671delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676369", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000354452.8:c.1037C>G" }, "RefSeq": { "hgvs": "NM_001083962.2:c.1037C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000346440.3:p.Ser346Ter" }, "RefSeq": { "hgvs": "NP_001077431.1:p.Ser346Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916006188", "coordinates": [ { "allele": "G", "end": 1403, "referenceAllele": "C", "start": 1402 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243226.3:c.1343C>G" ], "proteinEffect": { "hgvs": "NP_001230155.2:p.Ser448Ter", "hgvsWellDefined": "NP_001230155.2:p.Ser448_Met773delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680199" }, { "@id": "http://reg.genome.network/allele/PA2826319586", "coordinates": [ { "allele": "G", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243227.2:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001230156.1:p.Ser322Ter", "hgvsWellDefined": "NP_001230156.1:p.Ser322_Met647delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680200" }, { "@id": "http://reg.genome.network/allele/PA2826320097", "coordinates": [ { "allele": "G", "end": 1590, "referenceAllele": "C", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243228.2:c.1055C>G" ], "proteinEffect": { "hgvs": "NP_001230157.1:p.Ser352Ter", "hgvsWellDefined": "NP_001230157.1:p.Ser352_Met677delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680201" }, { "@id": "http://reg.genome.network/allele/PA2826321085", "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243231.2:c.911C>G" ], "proteinEffect": { "hgvs": "NP_001230160.1:p.Ser304Ter", "hgvsWellDefined": "NP_001230160.1:p.Ser304_Met625delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680202" }, { "@id": "http://reg.genome.network/allele/PA2826321951", "coordinates": [ { "allele": "G", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243233.2:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001230162.1:p.Ser216Ter", "hgvsWellDefined": "NP_001230162.1:p.Ser216_Met537delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680203" }, { "@id": "http://reg.genome.network/allele/PA2826322331", "coordinates": [ { "allele": "G", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243234.2:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001230163.1:p.Ser186Ter", "hgvsWellDefined": "NP_001230163.1:p.Ser186_Met511delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680204" }, { "@id": "http://reg.genome.network/allele/PA2826322712", "coordinates": [ { "allele": "G", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243235.2:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001230164.1:p.Ser186Ter", "hgvsWellDefined": "NP_001230164.1:p.Ser186_Met507delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680205" }, { "@id": "http://reg.genome.network/allele/PA2826323091", "coordinates": [ { "allele": "G", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243236.2:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001230165.1:p.Ser186Ter", "hgvsWellDefined": "NP_001230165.1:p.Ser186_Met507delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS680206" }, { "@id": "http://reg.genome.network/allele/PA2827335313", "coordinates": [ { "allele": "G", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330604.3:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001317533.1:p.Ser346Ter", "hgvsWellDefined": "NP_001317533.1:p.Ser346_Met670delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687027" }, { "@id": "http://reg.genome.network/allele/PA2827335734", "coordinates": [ { "allele": "G", "end": 777, "referenceAllele": "C", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001330605.3:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001317534.1:p.Ser216Ter", "hgvsWellDefined": "NP_001317534.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687028" }, { "@id": "http://reg.genome.network/allele/PA2827430736", "coordinates": [ { "allele": "G", "end": 1086, "referenceAllele": "C", "start": 1085 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348211.2:c.911C>G" ], "proteinEffect": { "hgvs": "NP_001335140.1:p.Ser304Ter", "hgvsWellDefined": "NP_001335140.1:p.Ser304_Met629delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687607" }, { "@id": "http://reg.genome.network/allele/PA2827431157", "coordinates": [ { "allele": "G", "end": 836, "referenceAllele": "C", "start": 835 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348212.2:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001335141.1:p.Ser216Ter", "hgvsWellDefined": "NP_001335141.1:p.Ser216_Met537delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687608" }, { "@id": "http://reg.genome.network/allele/PA2827431546", "coordinates": [ { "allele": "G", "end": 839, "referenceAllele": "C", "start": 838 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348213.2:c.647C>G" ], "proteinEffect": { "hgvs": "NP_001335142.1:p.Ser216Ter", "hgvsWellDefined": "NP_001335142.1:p.Ser216_Met541delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687609" }, { "@id": "http://reg.genome.network/allele/PA2827431923", "coordinates": [ { "allele": "G", "end": 660, "referenceAllele": "C", "start": 659 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348214.2:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001335143.1:p.Ser186Ter", "hgvsWellDefined": "NP_001335143.1:p.Ser186_Met506delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687610" }, { "@id": "http://reg.genome.network/allele/PA2827432243", "coordinates": [ { "allele": "G", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348215.2:c.389C>G" ], "proteinEffect": { "hgvs": "NP_001335144.1:p.Ser130Ter", "hgvsWellDefined": "NP_001335144.1:p.Ser130_Met455delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687611" }, { "@id": "http://reg.genome.network/allele/PA2827432602", "coordinates": [ { "allele": "G", "end": 733, "referenceAllele": "C", "start": 732 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348216.2:c.557C>G" ], "proteinEffect": { "hgvs": "NP_001335145.1:p.Ser186Ter", "hgvsWellDefined": "NP_001335145.1:p.Ser186_Met511delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687612" }, { "@id": "http://reg.genome.network/allele/PA2827433608", "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348218.2:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001335147.1:p.Ser322Ter", "hgvsWellDefined": "NP_001335147.1:p.Ser322_Met647delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687613" }, { "@id": "http://reg.genome.network/allele/PA2827434109", "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001348219.2:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001335148.1:p.Ser322Ter", "hgvsWellDefined": "NP_001335148.1:p.Ser322_Met643delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687614" }, { "@id": "http://reg.genome.network/allele/PA2828343988", "coordinates": [ { "allele": "G", "end": 1572, "referenceAllele": "C", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369567.1:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001356496.1:p.Ser346Ter", "hgvsWellDefined": "NP_001356496.1:p.Ser346_Met671delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691778" }, { "@id": "http://reg.genome.network/allele/PA2828344499", "coordinates": [ { "allele": "G", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369568.1:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001356497.1:p.Ser346Ter", "hgvsWellDefined": "NP_001356497.1:p.Ser346_Met671delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691779" }, { "@id": "http://reg.genome.network/allele/PA2828345009", "coordinates": [ { "allele": "G", "end": 1202, "referenceAllele": "C", "start": 1201 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369569.1:c.1034C>G" ], "proteinEffect": { "hgvs": "NP_001356498.1:p.Ser345Ter", "hgvsWellDefined": "NP_001356498.1:p.Ser345_Met670delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691780" }, { "@id": "http://reg.genome.network/allele/PA2828345519", "coordinates": [ { "allele": "G", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369570.1:c.1034C>G" ], "proteinEffect": { "hgvs": "NP_001356499.1:p.Ser345Ter", "hgvsWellDefined": "NP_001356499.1:p.Ser345_Met670delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691781" }, { "@id": "http://reg.genome.network/allele/PA2828346027", "coordinates": [ { "allele": "G", "end": 1572, "referenceAllele": "C", "start": 1571 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369571.1:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001356500.1:p.Ser346Ter", "hgvsWellDefined": "NP_001356500.1:p.Ser346_Met667delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691782" }, { "@id": "http://reg.genome.network/allele/PA2828346538", "coordinates": [ { "allele": "G", "end": 1205, "referenceAllele": "C", "start": 1204 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369572.1:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001356501.1:p.Ser346Ter", "hgvsWellDefined": "NP_001356501.1:p.Ser346_Met667delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691783" }, { "@id": "http://reg.genome.network/allele/PA2828347045", "coordinates": [ { "allele": "G", "end": 1209, "referenceAllele": "C", "start": 1208 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369573.1:c.1034C>G" ], "proteinEffect": { "hgvs": "NP_001356502.1:p.Ser345Ter", "hgvsWellDefined": "NP_001356502.1:p.Ser345_Met666delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691784" }, { "@id": "http://reg.genome.network/allele/PA2828347554", "coordinates": [ { "allele": "G", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369574.1:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_001356503.1:p.Ser346Ter", "hgvsWellDefined": "NP_001356503.1:p.Ser346_Met666delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691785" }, { "@id": "http://reg.genome.network/allele/PA2828348057", "coordinates": [ { "allele": "G", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369575.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001356504.1:p.Ser322Ter", "hgvsWellDefined": "NP_001356504.1:p.Ser322_Met647delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691786" }, { "@id": "http://reg.genome.network/allele/PA2828348557", "coordinates": [ { "allele": "G", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369576.1:c.962C>G" ], "proteinEffect": { "hgvs": "NP_001356505.1:p.Ser321Ter", "hgvsWellDefined": "NP_001356505.1:p.Ser321_Met646delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691787" }, { "@id": "http://reg.genome.network/allele/PA2828349060", "coordinates": [ { "allele": "G", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369577.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001356506.1:p.Ser322Ter", "hgvsWellDefined": "NP_001356506.1:p.Ser322_Met646delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691788" }, { "@id": "http://reg.genome.network/allele/PA2828349561", "coordinates": [ { "allele": "G", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369578.1:c.962C>G" ], "proteinEffect": { "hgvs": "NP_001356507.1:p.Ser321Ter", "hgvsWellDefined": "NP_001356507.1:p.Ser321_Met646delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691789" }, { "@id": "http://reg.genome.network/allele/PA2828350064", "coordinates": [ { "allele": "G", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369579.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001356508.1:p.Ser322Ter", "hgvsWellDefined": "NP_001356508.1:p.Ser322_Met646delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691790" }, { "@id": "http://reg.genome.network/allele/PA2828350567", "coordinates": [ { "allele": "G", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369580.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001356509.1:p.Ser322Ter", "hgvsWellDefined": "NP_001356509.1:p.Ser322_Met646delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691791" }, { "@id": "http://reg.genome.network/allele/PA2828351068", "coordinates": [ { "allele": "G", "end": 1112, "referenceAllele": "C", "start": 1111 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369581.1:c.962C>G" ], "proteinEffect": { "hgvs": "NP_001356510.1:p.Ser321Ter", "hgvsWellDefined": "NP_001356510.1:p.Ser321_Met646delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691792" }, { "@id": "http://reg.genome.network/allele/PA2828351569", "coordinates": [ { "allele": "G", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369582.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001356511.1:p.Ser322Ter", "hgvsWellDefined": "NP_001356511.1:p.Ser322_Met643delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691793" }, { "@id": "http://reg.genome.network/allele/PA2828352070", "coordinates": [ { "allele": "G", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369583.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001356512.1:p.Ser322Ter", "hgvsWellDefined": "NP_001356512.1:p.Ser322_Met643delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691794" }, { "@id": "http://reg.genome.network/allele/PA2828352573", "coordinates": [ { "allele": "G", "end": 1477, "referenceAllele": "C", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369584.1:c.962C>G" ], "proteinEffect": { "hgvs": "NP_001356513.1:p.Ser321Ter", "hgvsWellDefined": "NP_001356513.1:p.Ser321_Met642delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691795" }, { "@id": "http://reg.genome.network/allele/PA2828353072", "coordinates": [ { "allele": "G", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369585.1:c.962C>G" ], "proteinEffect": { "hgvs": "NP_001356514.1:p.Ser321Ter", "hgvsWellDefined": "NP_001356514.1:p.Ser321_Met642delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691796" }, { "@id": "http://reg.genome.network/allele/PA2828353551", "coordinates": [ { "allele": "G", "end": 1480, "referenceAllele": "C", "start": 1479 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001369586.1:c.965C>G" ], "proteinEffect": { "hgvs": "NP_001356515.1:p.Ser322Ter", "hgvsWellDefined": "NP_001356515.1:p.Ser322_Met648delinsThrProValGlySerProProSerLeuSerGlyThrGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrArgSerArgSerSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS691797" }, { "@id": "http://reg.genome.network/allele/PA2829423266", "coordinates": [ { "allele": "G", "end": 1212, "referenceAllele": "C", "start": 1211 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_003199.3:c.1037C>G" ], "proteinEffect": { "hgvs": "NP_003190.1:p.Ser346Ter", "hgvsWellDefined": "NP_003190.1:p.Ser346_Met667delinsThrProValGlySerProProSerLeuSerAlaGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS695755" }, { "@id": "http://reg.genome.network/allele/PA2826320600", "coordinates": [ { "allele": "G", "end": 1113, "referenceAllele": "C", "start": 1112 } ], "gene": "http://reg.genome.network/gene/GN011634", "geneNCBI_id": 6925, "geneSymbol": "TCF4", "hgvs": [ "NM_001243230.2:c.1031C>G" ], "proteinEffect": { "hgvs": "NP_001230159.1:p.Ser344Ter", "hgvsWellDefined": "NP_001230159.1:p.Ser344_Met664delinsThrProValGlySerProProSerLeuSerGlyThrAlaValTrpSerArgAsnGlyGlyGlnAlaSerSerSerProAsnTyrGluGlyProLeuHisSerLeuGlnSerArgIleGluAspArgLeuGluArgLeuAspAspAlaIleHisValLeuArgAsnHisAlaValGlyProSerThrAlaMetProGlyGlyHisGlyAspMetHisGlyIleIleGlyProSerHisAsnGlyAlaMetGlyGlyLeuGlySerGlyTyrGlyThrGlyLeuLeuSerAlaAsnArgHisSerLeuMetValGlyThrHisArgGluAspGlyValAlaLeuArgGlySerHisSerLeuLeuProAsnGlnValProValProGlnLeuProValGlnSerAlaThrSerProAspLeuAsnProProGlnAspProTyrArgGlyMetProProGlyLeuGlnGlyGlnSerValSerSerGlySerSerGluIleLysSerAspAspGluGlyAspGluAsnLeuGlnAspThrLysSerSerGluAspLysLysLeuAspAspAspLysLysAspIleLysSerIleThrSerAsnAsnAspAspGluAspLeuThrProGluGlnLysAlaGluArgGluLysGluArgArgMetAlaAsnAsnAlaArgGluArgLeuArgValArgAspIleAsnGluAlaPheLysGluLeuGlyArgMetValGlnLeuHisLeuLysSerAspLysProGlnThrLysLeuLeuIleLeuHisGlnAlaValAlaValIleLeuSerLeuGluGlnGlnValArgGluArgAsnLeuAsnProLysAlaAlaCysLeuLysArgArgGluGluGluLysValSerSerGluProProProLeuSerLeuAlaGlyProHisProGlyMetGlyAspAlaSerAsnHisMetGlyGlnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS714455" } ], "type": "nucleotide" }