{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA390302993", "communityStandardTitle": [ "NM_000021.4(PSEN1):c.214G>T (p.Glu72Ter)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73637631G>T?assembly=hg19", "id": "chr14:g.73637631G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.73170923G>T?assembly=hg38", "id": "chr14:g.73170923G>T" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 73170923, "referenceAllele": "G", "start": 73170922 } ], "hgvs": [ "NC_000014.9:g.73170923G>T", "CM000676.2:g.73170923G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 73637631, "referenceAllele": "G", "start": 73637630 } ], "hgvs": [ "NC_000014.8:g.73637631G>T", "CM000676.1:g.73637631G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "T", "end": 72707384, "referenceAllele": "G", "start": 72707383 } ], "hgvs": [ "NC_000014.7:g.72707384G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "T", "end": 39453, "referenceAllele": "G", "start": 39452 } ], "hgvs": [ "NG_007386.2:g.39453G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000560" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 611, "referenceAllele": "G", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553447.7:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000514869.1:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905852" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553599.6:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000452477.2:p.Glu68Ter", "hgvsWellDefined": "ENSP00000452477.2:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905856" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.6:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000451915.2:p.Glu72Ter", "hgvsWellDefined": "ENSP00000451915.2:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905859" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.6:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000450845.1:p.Glu68_Ile374delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluArgAlaCysLeuProProAlaAlaIleAsnLeuLeuSerIleAlaProMetAlaProArgLeuPheMetProLysGlyAlaCysArgProThrAlaGlnLysGlySerHisLysThrLeuLeuGlnArgMetMetMetAlaGlySerValArgAsnGlyLysProArgGlyThrValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905866" }, { "coordinates": [ { "allele": "T", "end": 658, "referenceAllele": "G", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556011.6:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000451662.2:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905871" }, { "coordinates": [ { "allele": "T", "end": 640, "referenceAllele": "G", "start": 639 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556066.2:n.640G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905873" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556951.6:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000450551.2:p.Glu68Ter", "hgvsWellDefined": "ENSP00000450551.2:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905881" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "G", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557293.6:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000451880.2:p.Glu72Ter", "hgvsWellDefined": "ENSP00000451880.2:p.Glu72_Ile427delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905886" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.6:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS905908" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697912.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000513477.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000513477.1:p.Glu68_Lys379delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluSerThrArgSerGlnArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS909070" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "G", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697913.1:n.468G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909071" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000697914.1:n.426G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS909072" }, { "coordinates": [ { "allele": "T", "end": 330, "referenceAllele": "G", "start": 329 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700265.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514901.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514901.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911092" }, { "coordinates": [ { "allele": "T", "end": 709, "referenceAllele": "G", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700266.1:c.*303G>T" ], "proteinEffect": { "hgvs": "ENSP00000514902.1:n.*303G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911093" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "G", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700267.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514903.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514903.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911094" }, { "coordinates": [ { "allele": "T", "end": 490, "referenceAllele": "G", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700268.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514904.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514904.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911095" }, { "coordinates": [ { "allele": "T", "end": 530, "referenceAllele": "G", "start": 529 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700269.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514905.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514905.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911096" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700270.1:n.470G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911097" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700271.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514906.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514906.1:p.Glu68_Ile405delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911098" }, { "coordinates": [ { "allele": "T", "end": 608, "referenceAllele": "G", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700272.1:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000514907.1:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911099" }, { "coordinates": [ { "allele": "T", "end": 510, "referenceAllele": "G", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700273.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514908.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514908.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911100" }, { "coordinates": [ { "allele": "T", "end": 480, "referenceAllele": "G", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700302.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514929.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514929.1:p.Glu72_Trp408delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluSerMetCysIleSerLeuCysCysLysValMetAspSerPheArgGlySerLysThrTrpIleGlyArgPheHisPheLeuGlnCysSerGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911127" }, { "coordinates": [ { "allele": "T", "end": 468, "referenceAllele": "G", "start": 467 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700303.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514930.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514930.1:p.Glu68_Leu116delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuAlaPheValPheValLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911128" }, { "coordinates": [ { "allele": "T", "end": 602, "referenceAllele": "G", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700304.1:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000514931.1:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911129" }, { "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700305.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514932.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514932.1:p.Glu68_Lys183delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysMetGluSerArgSerValAlaGlnAlaGlyValGlnTrpCysAspLeuSerSerProGlnProProProLeuArgLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911130" }, { "coordinates": [ { "allele": "T", "end": 503, "referenceAllele": "G", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700306.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514933.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514933.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911131" }, { "coordinates": [ { "allele": "T", "end": 456, "referenceAllele": "G", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700307.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514934.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514934.1:p.Glu72_Ile434delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAlaThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911132" }, { "coordinates": [ { "allele": "T", "end": 564, "referenceAllele": "G", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700308.1:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000514935.1:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911133" }, { "coordinates": [ { "allele": "T", "end": 649, "referenceAllele": "G", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700309.1:c.*303G>T" ], "proteinEffect": { "hgvs": "ENSP00000514936.1:n.*303G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911134" }, { "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700310.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514937.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514937.1:p.Glu68_Ile341delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAlaThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluArgAlaCysLeuProProAlaAlaIleAsnLeuLeuSerIleAlaProMetAlaProArgLeuPheMetProLysGlyAlaCysArgProThrAlaGlnLysGlySerHisLysThrLeuLeuGlnArgMetMetMetAlaGlySerValArgAsnGlyLysProArgGlyThrValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911135" }, { "coordinates": [ { "allele": "T", "end": 467, "referenceAllele": "G", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700311.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514938.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514938.1:p.Glu72_Trp408delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluSerMetCysIleSerLeuCysCysLysValMetAspSerPheArgGlySerLysThrTrpIleGlyArgPheHisPheLeuGlnCysSerGlyTrpTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911136" }, { "coordinates": [ { "allele": "T", "end": 326, "referenceAllele": "G", "start": 325 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700312.1:c.-36G>T" ], "proteinEffect": { "hgvs": "ENSP00000514939.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911137" }, { "coordinates": [ { "allele": "T", "end": 451, "referenceAllele": "G", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700313.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514940.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514940.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911138" }, { "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "G", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700314.1:c.*153G>T" ], "proteinEffect": { "hgvs": "ENSP00000514941.1:n.*153G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911139" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700315.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514942.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514942.1:p.Glu72_Lys187delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysMetGluSerArgSerValAlaGlnAlaGlyValGlnTrpCysAspLeuSerSerProGlnProProProLeuArgLeuLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911140" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700316.1:c.306G>T" ], "proteinEffect": { "hgvs": "ENSP00000514943.1:p.Arg102Ser", "hgvsWellDefined": "ENSP00000514943.1:p.Arg102Ser" }, "referenceSequence": "http://reg.genome.network/refseq/RS911141" }, { "coordinates": [ { "allele": "T", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700317.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514944.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514944.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911142" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700318.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514945.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514945.1:p.Glu72_Leu120delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuAlaPheValPheValLeuLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911143" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700319.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514946.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514946.1:p.Glu72_Val163delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysGlySerValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911144" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700320.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514947.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514947.1:p.Glu72_Ile476delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspValPheTyrValPheLeuPheLeuAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911145" }, { "coordinates": [ { "allele": "T", "end": 428, "referenceAllele": "G", "start": 427 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700321.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514948.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514948.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911146" }, { "coordinates": [ { "allele": "T", "end": 380, "referenceAllele": "G", "start": 379 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700322.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514949.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514949.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911147" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700323.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514950.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514950.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911148" }, { "coordinates": [ { "allele": "T", "end": 432, "referenceAllele": "G", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700324.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514951.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514951.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911149" }, { "coordinates": [ { "allele": "T", "end": 489, "referenceAllele": "G", "start": 488 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700375.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514966.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514966.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911167" }, { "coordinates": [ { "allele": "T", "end": 798, "referenceAllele": "G", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700376.1:n.798G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911168" }, { "coordinates": [ { "allele": "T", "end": 810, "referenceAllele": "G", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700377.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514967.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514967.1:p.Glu72_Pro215delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyLeuThrLeuLeuProArgLeuGluCysSerGlyMetIleSerAlaHisCysAsnProHisLeuLeuAspSerSerAspSerProAlaSerAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911169" }, { "coordinates": [ { "allele": "T", "end": 810, "referenceAllele": "G", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700378.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514968.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514968.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911170" }, { "coordinates": [ { "allele": "T", "end": 612, "referenceAllele": "G", "start": 611 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700379.1:n.612G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911171" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "G", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700388.1:n.461G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911173" }, { "coordinates": [ { "allele": "T", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700389.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514970.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514970.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911174" }, { "coordinates": [ { "allele": "T", "end": 1925, "referenceAllele": "G", "start": 1924 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700390.1:n.1925G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911175" }, { "coordinates": [ { "allele": "T", "end": 1097, "referenceAllele": "G", "start": 1096 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700404.1:n.1097G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911189" }, { "coordinates": [ { "allele": "T", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700430.1:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000514985.1:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911211" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700431.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000514986.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000514986.1:p.Glu68_Thr180delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValSerMetArgHisArgSerLeuLeuSerThrLeuPhePheLeuTrpLeuGlyIleLeuValThrValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911212" }, { "coordinates": [ { "allele": "T", "end": 571, "referenceAllele": "G", "start": 570 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700432.1:n.571G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911213" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700433.1:n.349G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911214" }, { "coordinates": [ { "allele": "T", "end": 467, "referenceAllele": "G", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700434.1:n.467G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911215" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700435.1:n.349G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911216" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700436.1:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000514987.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000514987.1:p.Glu72_Ile378delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluArgAlaCysLeuProProAlaAlaIleAsnLeuLeuSerIleAlaProMetAlaProArgLeuPheMetProLysGlyAlaCysArgProThrAlaGlnLysGlySerHisLysThrLeuLeuGlnArgMetMetMetAlaGlySerValArgAsnGlyLysProArgGlyThrValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911217" }, { "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "G", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700437.1:c.-36G>T" ], "proteinEffect": { "hgvs": "ENSP00000514988.1:n.-36G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911218" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "G", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700467.1:n.349G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911227" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "G", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700468.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000515001.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000515001.1:p.Glu68_Ile430delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAlaThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911228" }, { "coordinates": [ { "allele": "T", "end": 343, "referenceAllele": "G", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000700469.1:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000515002.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000515002.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911229" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.10:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Glu72Ter", "hgvsWellDefined": "ENSP00000326366.5:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS746639", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.214G>T" }, "RefSeq": { "hgvs": "NM_000021.4:c.214G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Glu72Ter" }, "RefSeq": { "hgvs": "NP_000012.1:p.Glu72Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000324501.9:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000326366.5:p.Glu72Ter", "hgvsWellDefined": "ENSP00000326366.5:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS258358" }, { "coordinates": [ { "allele": "T", "end": 474, "referenceAllele": "G", "start": 473 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000357710.8:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000350342.4:p.Glu68Ter", "hgvsWellDefined": "ENSP00000350342.4:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264203" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394157.7:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000377712.3:p.Glu72Ter", "hgvsWellDefined": "ENSP00000377712.3:p.Glu72_Thr184delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValSerMetArgHisArgSerLeuLeuSerThrLeuPhePheLeuTrpLeuGlyIleLeuValThrValThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276015" }, { "coordinates": [ { "allele": "T", "end": 744, "referenceAllele": "G", "start": 743 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000394164.5:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000377719.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000377719.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276020" }, { "coordinates": [ { "allele": "T", "end": 1760, "referenceAllele": "G", "start": 1759 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000406768.1:c.-63G>T" ], "proteinEffect": { "hgvs": "ENSP00000385948.1:n.-63G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS280729" }, { "coordinates": [ { "allele": "T", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553599.5:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000452477.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000452477.1:p.Glu68_Val92del" }, "referenceSequence": "http://reg.genome.network/refseq/RS369986" }, { "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "G", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553719.5:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000451674.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000451674.1:p.Glu68_Val147del" }, "referenceSequence": "http://reg.genome.network/refseq/RS370080" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000553855.5:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000452242.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000452242.1:p.Glu72_Ile378delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluArgAlaCysLeuProProAlaAlaIleAsnLeuLeuSerIleAlaProMetAlaProArgLeuPheMetProLysGlyAlaCysArgProThrAlaGlnLysGlySerHisLysThrLeuLeuGlnArgMetMetMetAlaGlySerValArgAsnGlyLysProArgGlyThrValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS370182" }, { "coordinates": [ { "allele": "T", "end": 478, "referenceAllele": "G", "start": 477 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000554131.5:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000451915.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000451915.1:p.Glu72_Lys109del" }, "referenceSequence": "http://reg.genome.network/refseq/RS370399" }, { "coordinates": [ { "allele": "T", "end": 501, "referenceAllele": "G", "start": 500 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555254.5:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000450652.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000450652.1:p.Glu72Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS371296" }, { "coordinates": [ { "allele": "T", "end": 202, "referenceAllele": "G", "start": 201 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000555386.5:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000450845.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000450845.1:p.Glu68_Ile374delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluArgAlaCysLeuProProAlaAlaIleAsnLeuLeuSerIleAlaProMetAlaProArgLeuPheMetProLysGlyAlaCysArgProThrAlaGlnLysGlySerHisLysThrLeuLeuGlnArgMetMetMetAlaGlySerValArgAsnGlyLysProArgGlyThrValIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS371393" }, { "coordinates": [ { "allele": "T", "end": 475, "referenceAllele": "G", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556533.5:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000452128.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000452128.1:p.Glu68Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS372298" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000556951.5:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000450551.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000450551.1:p.Glu68_Val91del" }, "referenceSequence": "http://reg.genome.network/refseq/RS372623" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "G", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557293.5:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000451880.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000451880.1:p.Glu72Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS372909" }, { "coordinates": [ { "allele": "T", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557356.5:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000451498.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000451498.1:p.Glu68_Met135del" }, "referenceSequence": "http://reg.genome.network/refseq/RS372957" }, { "coordinates": [ { "allele": "T", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000557511.5:c.214G>T" ], "proteinEffect": { "hgvs": "ENSP00000451429.1:p.Glu72Ter", "hgvsWellDefined": "ENSP00000451429.1:p.Glu72_Ile409delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS373091" }, { "coordinates": [ { "allele": "T", "end": 529, "referenceAllele": "G", "start": 528 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000559361.5:c.*158G>T" ], "proteinEffect": { "hgvs": "ENSP00000454156.1:n.*158G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS374522" }, { "coordinates": [ { "allele": "T", "end": 572, "referenceAllele": "G", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "ENST00000560005.6:c.202G>T" ], "proteinEffect": { "hgvs": "ENSP00000453466.1:p.Glu68Ter", "hgvsWellDefined": "ENSP00000453466.1:p.Glu68Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS375024" }, { "coordinates": [ { "allele": "T", "end": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.3:c.214G>T" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Glu72Ter", "hgvsWellDefined": "NP_000012.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006086" }, { "coordinates": [ { "allele": "T", "end": 486, "referenceAllele": "G", "start": 485 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.2:c.202G>T" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Glu68Ter", "hgvsWellDefined": "NP_015557.2:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032224" }, { "coordinates": [ { "allele": "T", "end": 492, "referenceAllele": "G", "start": 491 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.1:c.214G>T" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Glu72Ter", "hgvsWellDefined": "XP_005267921.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065537" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.1:c.202G>T" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Glu68Ter", "hgvsWellDefined": "XP_005267923.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065538" }, { "coordinates": [ { "allele": "T", "end": 390, "referenceAllele": "G", "start": 389 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536971.1:c.214G>T" ], "proteinEffect": { "hgvs": "XP_011535273.1:p.Glu72Ter", "hgvsWellDefined": "XP_011535273.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103942" }, { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "G", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.1:c.214G>T" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Glu72Ter", "hgvsWellDefined": "XP_011535274.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103943" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "G", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.1:c.202G>T" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Glu68Ter", "hgvsWellDefined": "XP_011535275.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103944" }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "G", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.1:c.202G>T" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Glu68Ter", "hgvsWellDefined": "XP_011535276.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS103945" }, { "coordinates": [ { "allele": "T", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267864.3:c.214G>T" ], "proteinEffect": { "hgvs": "XP_005267921.1:p.Glu72Ter", "hgvsWellDefined": "XP_005267921.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536476" }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "G", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_005267866.2:c.202G>T" ], "proteinEffect": { "hgvs": "XP_005267923.1:p.Glu68Ter", "hgvsWellDefined": "XP_005267923.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536477" }, { "coordinates": [ { "allele": "T", "end": 754, "referenceAllele": "G", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536972.2:c.214G>T" ], "proteinEffect": { "hgvs": "XP_011535274.1:p.Glu72Ter", "hgvsWellDefined": "XP_011535274.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552699" }, { "coordinates": [ { "allele": "T", "end": 742, "referenceAllele": "G", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536973.2:c.202G>T" ], "proteinEffect": { "hgvs": "XP_011535275.1:p.Glu68Ter", "hgvsWellDefined": "XP_011535275.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552700" }, { "coordinates": [ { "allele": "T", "end": 378, "referenceAllele": "G", "start": 377 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "XM_011536974.2:c.202G>T" ], "proteinEffect": { "hgvs": "XP_011535276.1:p.Glu68Ter", "hgvsWellDefined": "XP_011535276.1:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS552701" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "G", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_000021.4:c.214G>T" ], "proteinEffect": { "hgvs": "NP_000012.1:p.Glu72Ter", "hgvsWellDefined": "NP_000012.1:p.Glu72_Ile467delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662285", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000324501.10:c.214G>T" }, "RefSeq": { "hgvs": "NM_000021.4:c.214G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000326366.5:p.Glu72Ter" }, "RefSeq": { "hgvs": "NP_000012.1:p.Glu72Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN009508", "geneNCBI_id": 5663, "geneSymbol": "PSEN1", "hgvs": [ "NM_007318.3:c.202G>T" ], "proteinEffect": { "hgvs": "NP_015557.2:p.Glu68Ter", "hgvsWellDefined": "NP_015557.2:p.Glu68_Ile463delinsLeuThrLeuLysTyrGlyAlaLysHisValIleMetLeuPheValProValThrLeuCysMetValValValValAlaThrIleLysSerValSerPheTyrThrArgLysAspGlyGlnLeuIleTyrThrProPheThrGluAspThrGluThrValGlyGlnArgAlaLeuHisSerIleLeuAsnAlaAlaIleMetIleSerValIleValValMetThrIleLeuLeuValValLeuTyrLysTyrArgCysTyrLysValIleHisAlaTrpLeuIleIleSerSerLeuLeuLeuLeuPhePhePheSerPheIleTyrLeuGlyGluValPheLysThrTyrAsnValAlaValAspTyrIleThrValAlaLeuLeuIleTrpAsnPheGlyValValGlyMetIleSerIleHisTrpLysGlyProLeuArgLeuGlnGlnAlaTyrLeuIleMetIleSerAlaLeuMetAlaLeuValPheIleLysTyrLeuProGluTrpThrAlaTrpLeuIleLeuAlaValIleSerValTyrAspLeuValAlaValLeuCysProLysGlyProLeuArgMetLeuValGluThrAlaGlnGluArgAsnGluThrLeuPheProAlaLeuIleTyrSerSerThrMetValTrpLeuValAsnMetAlaGluGlyAspProGluAlaGlnArgArgValSerLysAsnSerLysTyrAsnAlaGluSerThrGluArgGluSerGlnAspThrValAlaGluAsnAspAspGlyGlyPheSerGluGluTrpGluAlaGlnArgAspSerHisLeuGlyProHisArgSerThrProGluSerArgAlaAlaValGlnGluLeuSerSerSerIleLeuAlaGlyGluAspProGluGluArgGlyValLysLeuGlyLeuGlyAspPheIlePheTyrSerValLeuValGlyLysAlaSerAlaThrAlaSerGlyAspTrpAsnThrThrIleAlaCysPheValAlaIleLeuIleGlyLeuCysLeuThrLeuLeuLeuLeuAlaIlePheLysLysAlaLeuProAlaLeuProIleSerIleThrPheGlyLeuValPheTyrPheAlaThrAspTyrLeuValGlnProPheMetAspGlnLeuAlaPheHisGlnPheTyrIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696969" } ], "type": "nucleotide" }