{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372493012", "communityStandardTitle": [ "NM_078480.3(PUF60):c.486G>A (p.Trp162Ter)" ], "externalRecords": { "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143818397C>T?assembly=hg38", "id": "chr8:g.143818397C>T" } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 143818397, "referenceAllele": "C", "start": 143818396 } ], "hgvs": [ "NC_000008.11:g.143818397C>T", "CM000670.2:g.143818397C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "T", "end": 144972555, "referenceAllele": "C", "start": 144972554 } ], "hgvs": [ "NC_000008.9:g.144972555C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "A", "end": 1983, "referenceAllele": "G", "start": 1982 } ], "hgvs": [ "NG_030583.1:g.1983G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS004958" }, { "coordinates": [ { "allele": "A", "end": 15990, "referenceAllele": "G", "start": 15989 } ], "hgvs": [ "NG_033879.1:g.15990G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1184, "referenceAllele": "G", "start": 1183 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.6:n.1184G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905638" }, { "coordinates": [ { "allele": "A", "end": 2541, "referenceAllele": "G", "start": 2540 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526151.6:n.2541G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS905663" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "G", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.6:c.432G>A" ], "proteinEffect": { "hgvs": "ENSP00000432610.2:p.Trp144Ter", "hgvsWellDefined": "ENSP00000432610.2:p.Trp144_Ala541delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905668" }, { "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "G", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.6:c.483G>A" ], "proteinEffect": { "hgvs": "ENSP00000436131.2:p.Trp161Ter", "hgvsWellDefined": "ENSP00000436131.2:p.Trp161_Ala558delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905682" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.6:c.357G>A" ], "proteinEffect": { "hgvs": "ENSP00000515500.1:p.Trp119Ter", "hgvsWellDefined": "ENSP00000515500.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905721" }, { "coordinates": [ { "allele": "A", "end": 737, "referenceAllele": "G", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532127.6:c.*331G>A" ], "proteinEffect": { "hgvs": "ENSP00000515484.1:n.*331G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905722" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.2:c.597G>A" ], "proteinEffect": { "hgvs": "ENSP00000433403.2:p.Trp199Ter", "hgvsWellDefined": "ENSP00000433403.2:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905731" }, { "coordinates": [ { "allele": "A", "end": 805, "referenceAllele": "G", "start": 804 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533362.2:c.561G>A" ], "proteinEffect": { "hgvs": "ENSP00000515502.1:p.Trp187Ter", "hgvsWellDefined": "ENSP00000515502.1:p.Trp187_Ala584delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905735" }, { "coordinates": [ { "allele": "A", "end": 1197, "referenceAllele": "G", "start": 1196 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703744.1:n.1197G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911916" }, { "coordinates": [ { "allele": "A", "end": 634, "referenceAllele": "G", "start": 633 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703803.1:n.634G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911953" }, { "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "G", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703846.1:c.357G>A" ], "proteinEffect": { "hgvs": "ENSP00000515498.1:p.Trp119Ter", "hgvsWellDefined": "ENSP00000515498.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911968" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "G", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703847.1:c.597G>A" ], "proteinEffect": { "hgvs": "ENSP00000515499.1:p.Trp199Ter", "hgvsWellDefined": "ENSP00000515499.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911969" }, { "coordinates": [ { "allele": "A", "end": 517, "referenceAllele": "G", "start": 516 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703848.1:n.517G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911970" }, { "coordinates": [ { "allele": "A", "end": 653, "referenceAllele": "G", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703849.1:c.357G>A" ], "proteinEffect": { "hgvs": "ENSP00000515501.1:p.Trp119Ter", "hgvsWellDefined": "ENSP00000515501.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911971" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "G", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703850.1:c.561G>A" ], "proteinEffect": { "hgvs": "ENSP00000515503.1:p.Trp187Ter", "hgvsWellDefined": "ENSP00000515503.1:p.Trp187_Ala584delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911972" }, { "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "G", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703851.1:n.406G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911973" }, { "coordinates": [ { "allele": "A", "end": 532, "referenceAllele": "G", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703852.1:c.*409G>A" ], "proteinEffect": { "hgvs": "ENSP00000515504.1:n.*409G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS911974" }, { "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "G", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703853.1:n.400G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS911975" }, { "coordinates": [ { "allele": "A", "end": 1333, "referenceAllele": "G", "start": 1332 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703866.1:c.486G>A" ], "proteinEffect": { "hgvs": "ENSP00000515511.1:p.Trp162Ter", "hgvsWellDefined": "ENSP00000515511.1:p.Trp162_Ala559delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911982" }, { "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.6:c.486G>A" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Trp162Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Trp162_Ala559delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758977", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.486G>A" }, "RefSeq": { "hgvs": "NM_078480.3:c.486G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Trp162Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Trp162Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "G", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000313352.11:c.306G>A" ], "proteinEffect": { "hgvs": "ENSP00000322016.7:p.Trp102Ter", "hgvsWellDefined": "ENSP00000322016.7:p.Trp102_Ala499delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256802" }, { "coordinates": [ { "allele": "A", "end": 484, "referenceAllele": "G", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000349157.10:c.435G>A" ], "proteinEffect": { "hgvs": "ENSP00000322036.7:p.Trp145Ter", "hgvsWellDefined": "ENSP00000322036.7:p.Trp145_Ala542delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262556" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "G", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000453551.6:c.357G>A" ], "proteinEffect": { "hgvs": "ENSP00000402953.2:p.Trp119Ter", "hgvsWellDefined": "ENSP00000402953.2:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302164" }, { "coordinates": [ { "allele": "A", "end": 399, "referenceAllele": "G", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000456095.6:c.399G>A" ], "proteinEffect": { "hgvs": "ENSP00000395417.2:p.Trp133Ter", "hgvsWellDefined": "ENSP00000395417.2:p.Trp133_Ala530delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303334" }, { "coordinates": [ { "allele": "A", "end": 1172, "referenceAllele": "G", "start": 1171 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.5:n.1172G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350706" }, { "coordinates": [ { "allele": "A", "end": 467, "referenceAllele": "G", "start": 466 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.5:c.432G>A" ], "proteinEffect": { "hgvs": "ENSP00000432610.1:p.Trp144Ter", "hgvsWellDefined": "ENSP00000432610.1:p.Trp144_Thr323del" }, "referenceSequence": "http://reg.genome.network/refseq/RS352323" }, { "coordinates": [ { "allele": "A", "end": 1042, "referenceAllele": "G", "start": 1041 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.5:c.486G>A" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Trp162Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Trp162_Ala559delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352505" }, { "coordinates": [ { "allele": "A", "end": 365, "referenceAllele": "G", "start": 364 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527197.5:c.348G>A" ], "proteinEffect": { "hgvs": "ENSP00000431960.1:p.Trp116Ter", "hgvsWellDefined": "ENSP00000431960.1:p.Trp116_Ala513delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352945" }, { "coordinates": [ { "allele": "A", "end": 523, "referenceAllele": "G", "start": 522 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527584.5:n.523G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353261" }, { "coordinates": [ { "allele": "A", "end": 479, "referenceAllele": "G", "start": 478 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.5:c.479G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353391" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000528320.5:n.411G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS353877" }, { "coordinates": [ { "allele": "A", "end": 217, "referenceAllele": "G", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000528999.5:n.217G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS354452" }, { "coordinates": [ { "allele": "A", "end": 567, "referenceAllele": "G", "start": 566 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000529693.1:n.567G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355060" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000529999.5:c.546G>A" ], "proteinEffect": { "hgvs": "ENSP00000434863.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000434863.1:p.Trp182_Lys263del" }, "referenceSequence": "http://reg.genome.network/refseq/RS355322" }, { "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531897.5:c.546G>A" ], "proteinEffect": { "hgvs": "ENSP00000437309.1:p.Trp182Ter", "hgvsWellDefined": "ENSP00000437309.1:p.Trp182Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356909" }, { "coordinates": [ { "allele": "A", "end": 646, "referenceAllele": "G", "start": 645 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.5:n.646G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS356955" }, { "coordinates": [ { "allele": "A", "end": 80, "referenceAllele": "G", "start": 79 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532884.1:c.80G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS357736" }, { "coordinates": [ { "allele": "A", "end": 673, "referenceAllele": "G", "start": 672 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.1:c.597G>A" ], "proteinEffect": { "hgvs": "ENSP00000433403.1:p.Trp199Ter", "hgvsWellDefined": "ENSP00000433403.1:p.Trp199Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS357975" }, { "@id": "http://reg.genome.network/allele/PA2825813105", "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "G", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.2:c.357G>A" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Trp119Ter", "hgvsWellDefined": "NP_001129505.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012577" }, { "@id": "http://reg.genome.network/allele/PA2826532373", "coordinates": [ { "allele": "A", "end": 515, "referenceAllele": "G", "start": 514 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.1:c.432G>A" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Trp144Ter", "hgvsWellDefined": "NP_001258025.1:p.Trp144_Ala541delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020492" }, { "@id": "http://reg.genome.network/allele/PA2826532481", "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.1:c.348G>A" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Trp116Ter", "hgvsWellDefined": "NP_001258026.1:p.Trp116_Ala513delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020493" }, { "@id": "http://reg.genome.network/allele/PA2826532599", "coordinates": [ { "allele": "A", "end": 566, "referenceAllele": "G", "start": 565 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.1:c.483G>A" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Trp161Ter", "hgvsWellDefined": "NP_001258027.1:p.Trp161_Ala558delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020494" }, { "@id": "http://reg.genome.network/allele/PA2826532705", "coordinates": [ { "allele": "A", "end": 482, "referenceAllele": "G", "start": 481 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.1:c.399G>A" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Trp133Ter", "hgvsWellDefined": "NP_001258028.1:p.Trp133_Ala530delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020495" }, { "@id": "http://reg.genome.network/allele/PA2826532804", "coordinates": [ { "allele": "A", "end": 537, "referenceAllele": "G", "start": 536 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.1:c.306G>A" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Trp102Ter", "hgvsWellDefined": "NP_001258029.1:p.Trp102_Ala499delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020496" }, { "@id": "http://reg.genome.network/allele/PA2829756630", "coordinates": [ { "allele": "A", "end": 518, "referenceAllele": "G", "start": 517 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.4:c.435G>A" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Trp145Ter", "hgvsWellDefined": "NP_055096.2:p.Trp145_Ala542delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033043" }, { "@id": "http://reg.genome.network/allele/PA645495275", "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "G", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.2:c.486G>A" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Trp162Ter", "hgvsWellDefined": "NP_510965.1:p.Trp162_Ala559delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040121" }, { "coordinates": [ { "allele": "A", "end": 773, "referenceAllele": "G", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516929.1:c.597G>A" ], "proteinEffect": { "hgvs": "XP_011515231.1:p.Trp199Ter", "hgvsWellDefined": "XP_011515231.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084128" }, { "coordinates": [ { "allele": "A", "end": 624, "referenceAllele": "G", "start": 623 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516930.1:c.546G>A" ], "proteinEffect": { "hgvs": "XP_011515232.1:p.Trp182Ter", "hgvsWellDefined": "XP_011515232.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084129" }, { "@id": "http://reg.genome.network/allele/PA2828070241", "coordinates": [ { "allele": "A", "end": 740, "referenceAllele": "G", "start": 739 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.1:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349824.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523097" }, { "@id": "http://reg.genome.network/allele/PA916043615", "coordinates": [ { "allele": "A", "end": 903, "referenceAllele": "G", "start": 902 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.1:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349825.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523098" }, { "@id": "http://reg.genome.network/allele/PA2828070408", "coordinates": [ { "allele": "A", "end": 689, "referenceAllele": "G", "start": 688 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.1:c.546G>A" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Trp182Ter", "hgvsWellDefined": "NP_001349826.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523099" }, { "coordinates": [ { "allele": "A", "end": 2101, "referenceAllele": "G", "start": 2100 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013234.1:c.597G>A" ], "proteinEffect": { "hgvs": "XP_016868723.1:p.Trp199Ter", "hgvsWellDefined": "XP_016868723.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566596" }, { "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013235.1:c.561G>A" ], "proteinEffect": { "hgvs": "XP_016868724.1:p.Trp187Ter", "hgvsWellDefined": "XP_016868724.1:p.Trp187_Ala584delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566597" }, { "coordinates": [ { "allele": "A", "end": 2050, "referenceAllele": "G", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013236.1:c.546G>A" ], "proteinEffect": { "hgvs": "XP_016868725.1:p.Trp182Ter", "hgvsWellDefined": "XP_016868725.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566598" }, { "coordinates": [ { "allele": "A", "end": 596, "referenceAllele": "G", "start": 595 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013239.1:c.357G>A" ], "proteinEffect": { "hgvs": "XP_016868728.1:p.Trp119Ter", "hgvsWellDefined": "XP_016868728.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566599" }, { "coordinates": [ { "allele": "A", "end": 545, "referenceAllele": "G", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013240.1:c.306G>A" ], "proteinEffect": { "hgvs": "XP_016868729.1:p.Trp102Ter", "hgvsWellDefined": "XP_016868729.1:p.Trp102_Ala499delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566600" }, { "@id": "http://reg.genome.network/allele/PA2825813105", "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "G", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.3:c.357G>A" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Trp119Ter", "hgvsWellDefined": "NP_001129505.1:p.Trp119_Ala516delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677385" }, { "@id": "http://reg.genome.network/allele/PA2826532373", "coordinates": [ { "allele": "A", "end": 444, "referenceAllele": "G", "start": 443 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.2:c.432G>A" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Trp144Ter", "hgvsWellDefined": "NP_001258025.1:p.Trp144_Ala541delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681114" }, { "@id": "http://reg.genome.network/allele/PA2826532481", "coordinates": [ { "allele": "A", "end": 360, "referenceAllele": "G", "start": 359 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.2:c.348G>A" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Trp116Ter", "hgvsWellDefined": "NP_001258026.1:p.Trp116_Ala513delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681115" }, { "@id": "http://reg.genome.network/allele/PA2826532599", "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "G", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.2:c.483G>A" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Trp161Ter", "hgvsWellDefined": "NP_001258027.1:p.Trp161_Ala558delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681116" }, { "@id": "http://reg.genome.network/allele/PA2826532705", "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.2:c.399G>A" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Trp133Ter", "hgvsWellDefined": "NP_001258028.1:p.Trp133_Ala530delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681117" }, { "@id": "http://reg.genome.network/allele/PA2826532804", "coordinates": [ { "allele": "A", "end": 469, "referenceAllele": "G", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.2:c.306G>A" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Trp102Ter", "hgvsWellDefined": "NP_001258029.1:p.Trp102_Ala499delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681118" }, { "@id": "http://reg.genome.network/allele/PA2828070241", "coordinates": [ { "allele": "A", "end": 672, "referenceAllele": "G", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.2:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349824.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690565" }, { "@id": "http://reg.genome.network/allele/PA916043615", "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "G", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.2:c.597G>A" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Trp199Ter", "hgvsWellDefined": "NP_001349825.1:p.Trp199_Ala596delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690566" }, { "@id": "http://reg.genome.network/allele/PA2828070408", "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.2:c.546G>A" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Trp182Ter", "hgvsWellDefined": "NP_001349826.1:p.Trp182_Ala579delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690567" }, { "@id": "http://reg.genome.network/allele/PA2829756630", "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "G", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.5:c.435G>A" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Trp145Ter", "hgvsWellDefined": "NP_055096.2:p.Trp145_Ala542delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697222" }, { "@id": "http://reg.genome.network/allele/PA645495275", "coordinates": [ { "allele": "A", "end": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.3:c.486G>A" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Trp162Ter", "hgvsWellDefined": "NP_510965.1:p.Trp162_Ala559delinsAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699498", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.486G>A" }, "RefSeq": { "hgvs": "NM_078480.3:c.486G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Trp162Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Trp162Ter" } } } } ], "type": "nucleotide" }