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"http://reg.genome.network/refseq/RS754128" }, { "coordinates": [ { "allele": "T", "end": 1571, "referenceAllele": "C", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000431914.6:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000412219.2:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS766953" }, { "coordinates": [ { "allele": "T", "end": 1542, "referenceAllele": "C", "start": 1541 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000642886.1:c.1309C>T" ], "proteinEffect": { "hgvs": "ENSP00000496020.1:p.Arg437Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS766970" }, { "coordinates": [ { "allele": "T", "end": 1743, "referenceAllele": "C", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000642986.1:c.1288C>T" ], "proteinEffect": { "hgvs": "ENSP00000494422.1:p.Arg430Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767026" }, { "coordinates": [ { "allele": "T", "end": 1605, "referenceAllele": "C", "start": 1604 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000642992.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000496385.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767030" }, { "coordinates": [ { "allele": "T", "end": 1705, "referenceAllele": "C", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000643031.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000495450.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767052" }, { "coordinates": [ { "allele": "T", "end": 1652, "referenceAllele": "C", "start": 1651 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000643052.1:n.1652C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767064" }, { "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "C", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000643297.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000494677.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767199" }, { "coordinates": [ { "allele": "T", "end": 1745, "referenceAllele": "C", "start": 1744 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000643541.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000494411.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767337" }, { "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "C", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000643865.1:n.1536C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767514" }, { "coordinates": [ { "allele": "T", "end": 1552, "referenceAllele": "C", "start": 1551 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000643977.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000494053.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767571" }, { "coordinates": [ { "allele": "T", "end": 1660, "referenceAllele": "C", "start": 1659 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000643992.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000493610.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767579" }, { "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000644138.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000496649.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000496649.1:p.Arg474_Trp702delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluValGlyLysCysGluGlnLeuPheIleTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767654" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "C", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ 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"http://reg.genome.network/refseq/RS767861" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000644678.1:c.1399C>T" ], "proteinEffect": { "hgvs": "ENSP00000495794.1:p.Arg467Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS767934" }, { "coordinates": [ { "allele": "T", "end": 1590, "referenceAllele": "C", "start": 1589 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000644867.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000495992.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000495992.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768041" }, { "coordinates": [ { "allele": "T", "end": 1601, "referenceAllele": "C", "start": 1600 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000644873.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000496511.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000496511.1:p.Arg474_Leu780delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768045" }, { "coordinates": [ { "allele": "T", "end": 259, "referenceAllele": "C", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000644906.1:c.259C>T" ], "proteinEffect": { "hgvs": "ENSP00000496584.1:p.Arg87Ter", "hgvsWellDefined": "ENSP00000496584.1:p.Arg87_Ala187del" }, "referenceSequence": "http://reg.genome.network/refseq/RS768067" }, { "coordinates": [ { "allele": "T", "end": 1641, "referenceAllele": "C", "start": 1640 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645210.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000496180.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000496180.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768228" }, { "coordinates": [ { "allele": "T", "end": 1640, "referenceAllele": "C", "start": 1639 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645276.1:c.1426C>T" ], "proteinEffect": { "hgvs": "ENSP00000494654.1:p.Arg476Ter", "hgvsWellDefined": "ENSP00000494654.1:p.Arg476_Leu783delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768261" }, { "coordinates": [ { "allele": "T", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645305.1:n.1824C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768280" }, { "coordinates": [ { "allele": "T", "end": 3263, "referenceAllele": "C", "start": 3262 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645320.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000495360.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000495360.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768288" }, { "coordinates": [ { "allele": "T", "end": 1707, "referenceAllele": "C", "start": 1706 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645493.1:c.1399C>T" ], "proteinEffect": { "hgvs": "ENSP00000494467.1:p.Arg467Ter", "hgvsWellDefined": "ENSP00000494467.1:p.Arg467_Leu774delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768383" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "C", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645763.1:n.486C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768533" }, { "coordinates": [ { "allele": "T", "end": 1753, "referenceAllele": "C", "start": 1752 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645900.1:c.1399C>T" ], "proteinEffect": { "hgvs": "ENSP00000495286.1:p.Arg467Ter", "hgvsWellDefined": "ENSP00000495286.1:p.Arg467_Leu774delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768596" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645927.1:c.434C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768611" }, { "coordinates": [ { "allele": "T", "end": 1697, "referenceAllele": "C", "start": 1696 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000645982.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000494845.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000494845.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768636" }, { "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000646074.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000494263.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000494263.1:p.Arg474_Ser715delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspGluAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768679" }, { "coordinates": [ { "allele": "T", "end": 1746, "referenceAllele": "C", "start": 1745 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000646116.1:c.1399C>T" ], "proteinEffect": { "hgvs": "ENSP00000495426.1:p.Arg467Ter", "hgvsWellDefined": "ENSP00000495426.1:p.Arg467_Leu774delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768707" }, { "coordinates": [ { "allele": "T", "end": 1606, "referenceAllele": "C", "start": 1605 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000646174.1:c.1399C>T" ], "proteinEffect": { "hgvs": "ENSP00000495161.1:p.Arg467Ter", "hgvsWellDefined": "ENSP00000495161.1:p.Arg467_Leu774delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768739" }, { "coordinates": [ { "allele": "T", "end": 1575, "referenceAllele": "C", "start": 1574 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000646369.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000494914.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000494914.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768832" }, { "coordinates": [ { "allele": "T", "end": 1765, "referenceAllele": "C", "start": 1764 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000646381.1:c.1399C>T" ], "proteinEffect": { "hgvs": "ENSP00000496067.1:p.Arg467Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS768840" }, { "coordinates": [ { "allele": "T", "end": 1515, "referenceAllele": "C", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000646725.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000496021.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS769384" }, { "coordinates": [ { "allele": "T", "end": 1540, "referenceAllele": "C", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000647413.1:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000493583.1:p.Arg474Ter", "hgvsWellDefined": "ENSP00000493583.1:p.Arg474Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS769396" }, { "coordinates": [ { "allele": "T", "end": 1700, "referenceAllele": "C", "start": 1699 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "ENST00000349496.9:c.1420C>T" ], "proteinEffect": { "hgvs": "ENSP00000344456.5:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS027231" }, { "coordinates": [ { "allele": "T", "end": 1702, "referenceAllele": "C", "start": 1701 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "XM_005264886.2:c.1420C>T" ], "proteinEffect": { "hgvs": "XP_005264943.1:p.Arg474Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS064412" }, { "coordinates": [ { "allele": "T", "end": 1600, "referenceAllele": "C", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "XM_006712983.1:c.1399C>T" ], "proteinEffect": { "hgvs": "XP_006713046.1:p.Arg467Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS069942" }, { "coordinates": [ { "allele": "T", "end": 1600, "referenceAllele": "C", "start": 1599 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "XM_006712984.1:c.1399C>T" ], "proteinEffect": { "hgvs": "XP_006713047.1:p.Arg467Ter", "hgvsWellDefined": 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"XP_024309128.1:p.Arg467_Leu774delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS586741" }, { "@id": "http://reg.genome.network/allele/PA658830163", "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "NM_001904.4:c.1420C>T" ], "proteinEffect": { "hgvs": "NP_001895.1:p.Arg474Ter", "hgvsWellDefined": "NP_001895.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS665237", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000349496.11:c.1420C>T" }, "RefSeq": { "hgvs": "NM_001904.4:c.1420C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344456.5:p.Arg474Ter" }, "RefSeq": { "hgvs": "NP_001895.1:p.Arg474Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825525015", "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "NM_001098209.2:c.1420C>T" ], "proteinEffect": { "hgvs": "NP_001091679.1:p.Arg474Ter", "hgvsWellDefined": "NP_001091679.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676422" }, { "@id": "http://reg.genome.network/allele/PA2825525482", "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "NM_001098210.2:c.1420C>T" ], "proteinEffect": { "hgvs": "NP_001091680.1:p.Arg474Ter", "hgvsWellDefined": "NP_001091680.1:p.Arg474_Leu781delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676423" }, { "@id": "http://reg.genome.network/allele/PA2827344769", "coordinates": [ { "allele": "T", "end": 1766, "referenceAllele": "C", "start": 1765 } ], "gene": "http://reg.genome.network/gene/GN002514", "geneNCBI_id": 1499, "geneSymbol": "CTNNB1", "hgvs": [ "NM_001330729.2:c.1399C>T" ], "proteinEffect": { "hgvs": "NP_001317658.1:p.Arg467Ter", "hgvsWellDefined": "NP_001317658.1:p.Arg467_Leu774delinsHisGlnGluAlaGluMetAlaGlnAsnAlaValArgLeuHisTyrGlyLeuProValValValLysLeuLeuHisProProSerHisTrpProLeuIleLysAlaThrValGlyLeuIleArgAsnLeuAlaLeuCysProAlaAsnHisAlaProLeuArgGluGlnGlyAlaIleProArgLeuValGlnLeuLeuValArgAlaHisGlnAspThrGlnArgArgThrSerMetGlyGlyThrGlnGlnGlnPheValGluGlyValArgMetGluGluIleValGluGlyCysThrGlyAlaLeuHisIleLeuAlaArgAspValHisAsnArgIleValIleArgGlyLeuAsnThrIleProLeuPheValGlnLeuLeuTyrSerProIleGluAsnIleGlnArgValAlaAlaGlyValLeuCysGluLeuAlaGlnAspLysGluAlaAlaGluAlaIleGluAlaGluGlyAlaThrAlaProLeuThrGluLeuLeuHisSerArgAsnGluGlyValAlaThrTyrAlaAlaAlaValLeuPheArgMetSerGluAspLysProGlnAspTyrLysLysArgLeuSerValGluLeuThrSerSerLeuPheArgThrGluProMetAlaTrpAsnGluThrAlaAspLeuGlyLeuAspIleGlyAlaGlnGlyGluProLeuGlyTyrArgGlnAspAspProSerTyrArgSerPheHisSerGlyGlyTyrGlyGlnAspAlaLeuGlyMetAspProMetMetGluHisGluMetGlyGlyHisHisProGlyAlaAspTyrProValAspGlyLeuProAspLeuGlyHisAlaGlnAspLeuMetAspGlyLeuProProGlyAspSerAsnGlnLeuAlaTrpPheAspThrAspLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS687089" } ], "type": "nucleotide" }