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}, "referenceSequence": "http://reg.genome.network/refseq/RS250633" }, { "coordinates": [ { "allele": "T", "end": 4636, "referenceAllele": "C", "start": 4635 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371375.1:c.4636C>T" ], "proteinEffect": { "hgvs": "ENSP00000360426.1:p.Gln1546Ter", "hgvsWellDefined": "ENSP00000360426.1:p.Gln1546_Gln1994delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268554" }, { "coordinates": [ { "allele": "T", "end": 5795, "referenceAllele": "C", "start": 5794 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371380.7:c.5560C>T" ], "proteinEffect": { "hgvs": "ENSP00000360431.2:p.Gln1854Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS268558" }, { "coordinates": [ { "allele": "T", "end": 4705, "referenceAllele": "C", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "ENST00000371385.7:c.4636C>T" ], "proteinEffect": { "hgvs": "ENSP00000360438.3:p.Gln1546Ter", "hgvsWellDefined": "ENSP00000360438.3:p.Gln1546_Gln1994delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS268561" }, { "@id": "http://reg.genome.network/allele/PA2826015723", "coordinates": [ { "allele": "T", "end": 4705, "referenceAllele": "C", "start": 4704 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001165979.2:c.4636C>T" ], "proteinEffect": { "hgvs": "NP_001159451.1:p.Gln1546Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS014755" }, { "@id": "http://reg.genome.network/allele/PA2826749236", "coordinates": [ { "allele": "T", "end": 6146, "referenceAllele": "C", "start": 6145 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.1:c.5512C>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Gln1838Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS023698" }, { "@id": "http://reg.genome.network/allele/PA115497", "coordinates": [ { "allele": "T", "end": 6194, "referenceAllele": "C", "start": 6193 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.3:c.5560C>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Gln1854Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS034631" }, { "coordinates": [ { "allele": "T", "end": 6186, "referenceAllele": "C", "start": 6185 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.2:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Gln1868Ter", "hgvsWellDefined": "XP_006717948.1:p.Gln1868_Gln2316delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072360" }, { "coordinates": [ { "allele": "T", "end": 6186, "referenceAllele": "C", "start": 6185 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717886.2:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_006717949.1:p.Gln1868Ter", "hgvsWellDefined": "XP_006717949.1:p.Gln1868_Gln2316delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072361" }, { "coordinates": [ { "allele": "T", "end": 6183, "referenceAllele": "C", "start": 6182 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.2:c.5599C>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Gln1867Ter", "hgvsWellDefined": "XP_006717951.1:p.Gln1867_Gln2315delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072362" }, { "coordinates": [ { "allele": "T", "end": 6138, "referenceAllele": "C", "start": 6137 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.2:c.5554C>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Gln1852Ter", "hgvsWellDefined": "XP_006717952.1:p.Gln1852_Gln2300delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072363" }, { "coordinates": [ { "allele": "T", "end": 4700, "referenceAllele": "C", "start": 4699 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.1:c.4678C>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Gln1560Ter", "hgvsWellDefined": "XP_006717953.1:p.Gln1560_Gln2008delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS072364" }, { "coordinates": [ { "allele": "T", "end": 5985, "referenceAllele": "C", "start": 5984 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.1:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Gln1868Ter", "hgvsWellDefined": "XP_011538151.1:p.Gln1868_Gln2316delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106799" }, { "coordinates": [ { "allele": "T", "end": 4482, "referenceAllele": "C", "start": 4481 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.1:c.4447C>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Gln1483Ter", "hgvsWellDefined": "XP_011538152.1:p.Gln1483_Gln1931delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS106800" }, { "coordinates": [ { "allele": "T", "end": 6184, "referenceAllele": "C", "start": 6183 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717885.4:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_006717948.1:p.Gln1868Ter", "hgvsWellDefined": "XP_006717948.1:p.Gln1868_Gln2316delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539503" }, { "coordinates": [ { "allele": "T", "end": 6181, "referenceAllele": "C", "start": 6180 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717888.4:c.5599C>T" ], "proteinEffect": { "hgvs": "XP_006717951.1:p.Gln1867Ter", "hgvsWellDefined": "XP_006717951.1:p.Gln1867_Gln2315delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539504" }, { "coordinates": [ { "allele": "T", "end": 6136, "referenceAllele": "C", "start": 6135 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717889.4:c.5554C>T" ], "proteinEffect": { "hgvs": "XP_006717952.1:p.Gln1852Ter", "hgvsWellDefined": "XP_006717952.1:p.Gln1852_Gln2300delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539505" }, { "coordinates": [ { "allele": "T", "end": 4700, "referenceAllele": "C", "start": 4699 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_006717890.3:c.4678C>T" ], "proteinEffect": { "hgvs": "XP_006717953.1:p.Gln1560Ter", "hgvsWellDefined": "XP_006717953.1:p.Gln1560_Gln2008delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS539506" }, { "coordinates": [ { "allele": "T", "end": 7341, "referenceAllele": "C", "start": 7340 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539849.3:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_011538151.1:p.Gln1868Ter", "hgvsWellDefined": "XP_011538151.1:p.Gln1868_Gln2316delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553823" }, { "coordinates": [ { "allele": "T", "end": 5829, "referenceAllele": "C", "start": 5828 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_011539850.3:c.4447C>T" ], "proteinEffect": { "hgvs": "XP_011538152.1:p.Gln1483Ter", "hgvsWellDefined": "XP_011538152.1:p.Gln1483_Gln1931delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS553824" }, { "coordinates": [ { "allele": "T", "end": 6231, "referenceAllele": "C", "start": 6230 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016310.2:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_016871799.1:p.Gln1868Ter", "hgvsWellDefined": "XP_016871799.1:p.Gln1868_Gln2316delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568781" }, { "coordinates": [ { "allele": "T", "end": 6184, "referenceAllele": "C", "start": 6183 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016311.2:c.5602C>T" ], "proteinEffect": { "hgvs": "XP_016871800.1:p.Gln1868Ter", "hgvsWellDefined": "XP_016871800.1:p.Gln1868_Gln2316delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568782" }, { "coordinates": [ { "allele": "T", "end": 4610, "referenceAllele": "C", "start": 4609 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "XM_017016312.2:c.4588C>T" ], "proteinEffect": { "hgvs": "XP_016871801.1:p.Gln1530Ter", "hgvsWellDefined": "XP_016871801.1:p.Gln1530_Gln1978delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS568783" }, { "@id": "http://reg.genome.network/allele/PA2826749236", "coordinates": [ { "allele": "T", "end": 6204, "referenceAllele": "C", "start": 6203 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_001288989.2:c.5512C>T" ], "proteinEffect": { "hgvs": "NP_001275918.1:p.Gln1838Ter", "hgvsWellDefined": "NP_001275918.1:p.Gln1838_Gln2286delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682560" }, { "@id": "http://reg.genome.network/allele/PA115497", "coordinates": [ { "allele": "T", "end": 6252, "referenceAllele": "C", "start": 6251 } ], "gene": "http://reg.genome.network/gene/GN017175", "geneNCBI_id": 51196, "geneSymbol": "PLCE1", "hgvs": [ "NM_016341.4:c.5560C>T" ], "proteinEffect": { "hgvs": "NP_057425.3:p.Gln1854Ter", "hgvsWellDefined": "NP_057425.3:p.Gln1854_Gln2302delinsLysPheSerProLeuGluArgAspLeuAspSerMetAspProAlaValTyrSerLeuThrIleValSerGlyGlnAsnValCysProSerAsnSerMetGlySerProCysIleGluValAspValLeuGlyMetProLeuAspSerCysHisPheArgThrLysProIleHisArgAsnThrLeuAsnProMetTrpAsnGluGlnPheLeuPheHisValHisPheGluAspLeuValPheLeuArgPheAlaValValGluAsnAsnSerSerAlaValThrAlaGlnArgIleIleProLeuLysAlaLeuLysArgGlyTyrArgHisLeuGlnLeuArgAsnLeuHisAsnGluValLeuGluIleSerSerLeuPheIleAsnSerArgArgMetGluGluAsnSerSerGlyAsnThrMetSerAlaSerSerMetPheAsnThrGluGluArgLysCysLeuGlnThrHisArgValThrValHisGlyValProGlyProGluProPheThrValPheThrIleAsnGlyGlyThrLysAlaLysGlnLeuLeuGlnGlnIleLeuThrAsnGluGlnAspIleLysProValThrThrAspTyrPheLeuMetGluGluLysTyrPheIleSerLysGluLysAsnGluCysArgLysGlnProPheGlnArgAlaIleGlyProGluGluGluIleMetGlnIleLeuSerSerTrpPheProGluGluGlyTyrMetGlyArgIleValLeuLysThrGlnGlnGluAsnLeuGluGluLysAsnIleValGlnAspAspLysGluValIleLeuSerSerGluGluGluSerPhePheValGlnValHisAspValSerProGluGlnProArgThrValIleLysAlaProArgValSerThrAlaGlnAspValIleGlnGlnThrLeuCysLysAlaLysTyrSerTyrSerIleLeuSerAsnProAsnProSerAspTyrValLeuLeuGluGluValValLysAspThrThrAsnLysLysThrThrThrProLysSerSerGlnArgValLeuLeuAspGlnGluCysValPheGlnAlaGlnSerLysTrpLysGlyAlaGlyLysPheIleLeuLysLeuLysGluGlnValGlnAlaSerArgGluAspLysLysLysGlyIleSerPheAlaSerGluLeuLysLysLeuThrLysSerThrLysGlnProArgGlyLeuThrSerProSerGlnLeuLeuThrSerGluSerIleGlnThrLysGluGluLysProValGlyGlyLeuSerSerSerAspThrMetAspTyrArgGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697711", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000371380.8:c.5560C>T" }, "RefSeq": { "hgvs": "NM_016341.4:c.5560C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000360431.2:p.Gln1854Ter" }, "RefSeq": { "hgvs": "NP_057425.3:p.Gln1854Ter" } } } } ], "type": "nucleotide" }