{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA372495877", "communityStandardTitle": [ "NM_078480.3(PUF60):c.274C>T (p.Gln92Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1675670[alleleid]", "alleleId": 1675670, "preferredName": "NM_078480.3(PUF60):c.274C>T (p.Gln92Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1683739", "RCV": [ "RCV002244260" ], "variationId": 1683739 } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr8:g.143821620G>A?assembly=hg38", "id": "chr8:g.143821620G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1210239952", "rs": 1210239952 } ] }, "genomicAlleles": [ { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 143821620, "referenceAllele": "G", "start": 143821619 } ], "hgvs": [ "NC_000008.11:g.143821620G>A", "CM000670.2:g.143821620G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000056" }, { "chromosome": "8", "coordinates": [ { "allele": "A", "end": 144975778, "referenceAllele": "G", "start": 144975777 } ], "hgvs": [ "NC_000008.9:g.144975778G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000008" }, { "coordinates": [ { "allele": "T", "end": 12767, "referenceAllele": "C", "start": 12766 } ], "hgvs": [ "NG_033879.1:g.12767C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS005565" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 972, "referenceAllele": "C", "start": 971 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.6:n.972C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905638" }, { "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526151.6:n.305C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS905663" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.6:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000432610.2:p.Gln91Ter", "hgvsWellDefined": "ENSP00000432610.2:p.Gln93_Ala541delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905668" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.6:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000436131.2:p.Gln91Ter", "hgvsWellDefined": "ENSP00000436131.2:p.Gln93_Ala558delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905682" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.6:c.145C>T" ], "proteinEffect": { "hgvs": "ENSP00000515500.1:p.Gln49Ter", "hgvsWellDefined": "ENSP00000515500.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905721" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532127.6:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000515484.1:p.Gln92Ter", "hgvsWellDefined": "ENSP00000515484.1:p.Gln94_Pro129delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerValAsnArgAsnAlaHisPhePheArgGlySerCysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905722" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.2:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000433403.2:p.Gln129Ter", "hgvsWellDefined": "ENSP00000433403.2:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905731" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533362.2:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000515502.1:p.Gln117Ter", "hgvsWellDefined": "ENSP00000515502.1:p.Gln119_Ala584delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905735" }, { "coordinates": [ { "allele": "T", "end": 1036, "referenceAllele": "C", "start": 1035 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703744.1:n.1036C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911916" }, { "coordinates": [ { "allele": "T", "end": 422, "referenceAllele": "C", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703803.1:n.422C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911953" }, { "coordinates": [ { "allele": "T", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703846.1:c.145C>T" ], "proteinEffect": { "hgvs": "ENSP00000515498.1:p.Gln49Ter", "hgvsWellDefined": "ENSP00000515498.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911968" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "C", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703847.1:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000515499.1:p.Gln129Ter", "hgvsWellDefined": "ENSP00000515499.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911969" }, { "coordinates": [ { "allele": "T", "end": 305, "referenceAllele": "C", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703848.1:n.305C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911970" }, { "coordinates": [ { "allele": "T", "end": 441, "referenceAllele": "C", "start": 440 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703849.1:c.145C>T" ], "proteinEffect": { "hgvs": "ENSP00000515501.1:p.Gln49Ter", "hgvsWellDefined": "ENSP00000515501.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911971" }, { "coordinates": [ { "allele": "T", "end": 500, "referenceAllele": "C", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703850.1:c.349C>T" ], "proteinEffect": { "hgvs": "ENSP00000515503.1:p.Gln117Ter", "hgvsWellDefined": "ENSP00000515503.1:p.Gln119_Ala584delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911972" }, { "coordinates": [ { "allele": "T", "end": 194, "referenceAllele": "C", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703851.1:n.194C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911973" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703852.1:c.*248C>T" ], "proteinEffect": { "hgvs": "ENSP00000515504.1:n.*248C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS911974" }, { "coordinates": [ { "allele": "T", "end": 188, "referenceAllele": "C", "start": 187 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703853.1:n.188C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS911975" }, { "coordinates": [ { "allele": "T", "end": 1121, "referenceAllele": "C", "start": 1120 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000703866.1:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000515511.1:p.Gln92Ter", "hgvsWellDefined": "ENSP00000515511.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS911982" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.6:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Gln92Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758977", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.274C>T" }, "RefSeq": { "hgvs": "NM_078480.3:c.274C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Gln92Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Gln92Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000313352.11:c.145C>T" ], "proteinEffect": { "hgvs": "ENSP00000322016.7:p.Gln49Ter", "hgvsWellDefined": "ENSP00000322016.7:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256802" }, { "coordinates": [ { "allele": "T", "end": 323, "referenceAllele": "C", "start": 322 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000349157.10:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000322036.7:p.Gln92Ter", "hgvsWellDefined": "ENSP00000322036.7:p.Gln94_Ala542delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262556" }, { "coordinates": [ { "allele": "T", "end": 293, "referenceAllele": "C", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000453551.6:c.145C>T" ], "proteinEffect": { "hgvs": "ENSP00000402953.2:p.Gln49Ter", "hgvsWellDefined": "ENSP00000402953.2:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302164" }, { "coordinates": [ { "allele": "T", "end": 187, "referenceAllele": "C", "start": 186 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000456095.6:c.187C>T" ], "proteinEffect": { "hgvs": "ENSP00000395417.2:p.Gln63Ter", "hgvsWellDefined": "ENSP00000395417.2:p.Gln65_Ala530delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303334" }, { "coordinates": [ { "allele": "T", "end": 960, "referenceAllele": "C", "start": 959 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.5:n.960C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS350706" }, { "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526151.5:n.286C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352062" }, { "coordinates": [ { "allele": "T", "end": 306, "referenceAllele": "C", "start": 305 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.5:c.271C>T" ], "proteinEffect": { "hgvs": "ENSP00000432610.1:p.Gln91Ter", "hgvsWellDefined": "ENSP00000432610.1:p.Gln91_Thr323del" }, "referenceSequence": "http://reg.genome.network/refseq/RS352323" }, { "coordinates": [ { "allele": "T", "end": 830, "referenceAllele": "C", "start": 829 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.5:c.274C>T" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Gln92Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352505" }, { "coordinates": [ { "allele": "T", "end": 204, "referenceAllele": "C", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527197.5:c.187C>T" ], "proteinEffect": { "hgvs": "ENSP00000431960.1:p.Gln63Ter", "hgvsWellDefined": "ENSP00000431960.1:p.Gln65_Ala513delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352945" }, { "coordinates": [ { "allele": "T", "end": 311, "referenceAllele": "C", "start": 310 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527584.5:n.311C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353261" }, { "coordinates": [ { "allele": "T", "end": 267, "referenceAllele": "C", "start": 266 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.5:c.267C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353391" }, { "coordinates": [ { "allele": "T", "end": 250, "referenceAllele": "C", "start": 249 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000528320.5:n.250C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353877" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000529999.5:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000434863.1:p.Gln129Ter", "hgvsWellDefined": "ENSP00000434863.1:p.Gln129_Lys263del" }, "referenceSequence": "http://reg.genome.network/refseq/RS355322" }, { "coordinates": [ { "allele": "T", "end": 427, "referenceAllele": "C", "start": 426 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531897.5:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000437309.1:p.Gln129Ter", "hgvsWellDefined": "ENSP00000437309.1:p.Gln129Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS356909" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "C", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.5:n.434C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS356955" }, { "coordinates": [ { "allele": "T", "end": 124, "referenceAllele": "C", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531995.1:n.124C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS356992" }, { "coordinates": [ { "allele": "T", "end": 290, "referenceAllele": "C", "start": 289 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532127.5:n.290C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357107" }, { "coordinates": [ { "allele": "T", "end": 461, "referenceAllele": "C", "start": 460 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533162.1:c.385C>T" ], "proteinEffect": { "hgvs": "ENSP00000433403.1:p.Gln129Ter", "hgvsWellDefined": "ENSP00000433403.1:p.Gln129Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS357975" }, { "coordinates": [ { "allele": "T", "end": 593, "referenceAllele": "C", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000533362.1:n.593C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS358145" }, { "@id": "http://reg.genome.network/allele/PA2825813078", "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Gln49Ter", "hgvsWellDefined": "NP_001129505.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012577" }, { "@id": "http://reg.genome.network/allele/PA2826532359", "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.1:c.271C>T" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Gln91Ter", "hgvsWellDefined": "NP_001258025.1:p.Gln93_Ala541delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020492" }, { "@id": "http://reg.genome.network/allele/PA2826532467", "coordinates": [ { "allele": "T", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.1:c.187C>T" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Gln63Ter", "hgvsWellDefined": "NP_001258026.1:p.Gln65_Ala513delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020493" }, { "@id": "http://reg.genome.network/allele/PA2826532585", "coordinates": [ { "allele": "T", "end": 354, "referenceAllele": "C", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.1:c.271C>T" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Gln91Ter", "hgvsWellDefined": "NP_001258027.1:p.Gln93_Ala558delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020494" }, { "@id": "http://reg.genome.network/allele/PA2826532693", "coordinates": [ { "allele": "T", "end": 270, "referenceAllele": "C", "start": 269 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.1:c.187C>T" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Gln63Ter", "hgvsWellDefined": "NP_001258028.1:p.Gln65_Ala530delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020495" }, { "@id": "http://reg.genome.network/allele/PA2826532795", "coordinates": [ { "allele": "T", "end": 376, "referenceAllele": "C", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.1:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Gln49Ter", "hgvsWellDefined": "NP_001258029.1:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020496" }, { "@id": "http://reg.genome.network/allele/PA2829756592", "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.4:c.274C>T" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Gln92Ter", "hgvsWellDefined": "NP_055096.2:p.Gln94_Ala542delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033043" }, { "@id": "http://reg.genome.network/allele/PA2573297250", "coordinates": [ { "allele": "T", "end": 357, "referenceAllele": "C", "start": 356 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.2:c.274C>T" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Gln92Ter", "hgvsWellDefined": "NP_510965.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040121" }, { "coordinates": [ { "allele": "T", "end": 561, "referenceAllele": "C", "start": 560 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516929.1:c.385C>T" ], "proteinEffect": { "hgvs": "XP_011515231.1:p.Gln129Ter", "hgvsWellDefined": "XP_011515231.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084128" }, { "coordinates": [ { "allele": "T", "end": 463, "referenceAllele": "C", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516930.1:c.385C>T" ], "proteinEffect": { "hgvs": "XP_011515232.1:p.Gln129Ter", "hgvsWellDefined": "XP_011515232.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084129" }, { "@id": "http://reg.genome.network/allele/PA2828070227", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.1:c.385C>T" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Gln129Ter", "hgvsWellDefined": "NP_001349824.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523097" }, { "@id": "http://reg.genome.network/allele/PA2828070345", "coordinates": [ { "allele": "T", "end": 691, "referenceAllele": "C", "start": 690 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.1:c.385C>T" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Gln129Ter", "hgvsWellDefined": "NP_001349825.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523098" }, { "@id": "http://reg.genome.network/allele/PA2828070394", "coordinates": [ { "allele": "T", "end": 528, "referenceAllele": "C", "start": 527 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.1:c.385C>T" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Gln129Ter", "hgvsWellDefined": "NP_001349826.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523099" }, { "coordinates": [ { "allele": "T", "end": 1889, "referenceAllele": "C", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013234.1:c.385C>T" ], "proteinEffect": { "hgvs": "XP_016868723.1:p.Gln129Ter", "hgvsWellDefined": "XP_016868723.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566596" }, { "coordinates": [ { "allele": "T", "end": 459, "referenceAllele": "C", "start": 458 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013235.1:c.349C>T" ], "proteinEffect": { "hgvs": "XP_016868724.1:p.Gln117Ter", "hgvsWellDefined": "XP_016868724.1:p.Gln119_Ala584delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566597" }, { "coordinates": [ { "allele": "T", "end": 1889, "referenceAllele": "C", "start": 1888 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013236.1:c.385C>T" ], "proteinEffect": { "hgvs": "XP_016868725.1:p.Gln129Ter", "hgvsWellDefined": "XP_016868725.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566598" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013239.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_016868728.1:p.Gln49Ter", "hgvsWellDefined": "XP_016868728.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566599" }, { "coordinates": [ { "allele": "T", "end": 384, "referenceAllele": "C", "start": 383 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013240.1:c.145C>T" ], "proteinEffect": { "hgvs": "XP_016868729.1:p.Gln49Ter", "hgvsWellDefined": "XP_016868729.1:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566600" }, { "@id": "http://reg.genome.network/allele/PA2825813078", "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.3:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Gln49Ter", "hgvsWellDefined": "NP_001129505.1:p.Gln51_Ala516delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677385" }, { "@id": "http://reg.genome.network/allele/PA2826532359", "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.2:c.271C>T" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Gln91Ter", "hgvsWellDefined": "NP_001258025.1:p.Gln93_Ala541delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681114" }, { "@id": "http://reg.genome.network/allele/PA2826532467", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.2:c.187C>T" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Gln63Ter", "hgvsWellDefined": "NP_001258026.1:p.Gln65_Ala513delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681115" }, { "@id": "http://reg.genome.network/allele/PA2826532585", "coordinates": [ { "allele": "T", "end": 283, "referenceAllele": "C", "start": 282 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.2:c.271C>T" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Gln91Ter", "hgvsWellDefined": "NP_001258027.1:p.Gln93_Ala558delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681116" }, { "@id": "http://reg.genome.network/allele/PA2826532693", "coordinates": [ { "allele": "T", "end": 199, "referenceAllele": "C", "start": 198 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.2:c.187C>T" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Gln63Ter", "hgvsWellDefined": "NP_001258028.1:p.Gln65_Ala530delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681117" }, { "@id": "http://reg.genome.network/allele/PA2826532795", "coordinates": [ { "allele": "T", "end": 308, "referenceAllele": "C", "start": 307 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.2:c.145C>T" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Gln49Ter", "hgvsWellDefined": "NP_001258029.1:p.Gln51_Ala499delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681118" }, { "@id": "http://reg.genome.network/allele/PA2828070227", "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.2:c.385C>T" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Gln129Ter", "hgvsWellDefined": "NP_001349824.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690565" }, { "@id": "http://reg.genome.network/allele/PA2828070345", "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "C", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.2:c.385C>T" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Gln129Ter", "hgvsWellDefined": "NP_001349825.1:p.Gln131_Ala596delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690566" }, { "@id": "http://reg.genome.network/allele/PA2828070394", "coordinates": [ { "allele": "T", "end": 460, "referenceAllele": "C", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.2:c.385C>T" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Gln129Ter", "hgvsWellDefined": "NP_001349826.1:p.Gln131_Ala579delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690567" }, { "@id": "http://reg.genome.network/allele/PA2829756592", "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.5:c.274C>T" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Gln92Ter", "hgvsWellDefined": "NP_055096.2:p.Gln94_Ala542delinsLeuThrAsnLeuGlnMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697222" }, { "@id": "http://reg.genome.network/allele/PA2573297250", "coordinates": [ { "allele": "T", "end": 286, "referenceAllele": "C", "start": 285 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.3:c.274C>T" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Gln92Ter", "hgvsWellDefined": "NP_510965.1:p.Gln94_Ala559delinsLeuThrAsnLeuGlnMetAlaAlaValThrMetGlyPheGlyAspProLeuSerProLeuGlnSerMetAlaAlaGlnArgGlnArgAlaLeuAlaIleMetCysArgValTyrValGlySerIleTyrTyrGluLeuGlyGluAspThrIleArgGlnAlaPheAlaProPheGlyProIleLysSerIleAspMetSerTrpAspSerValThrMetLysHisLysGlyPheAlaPheValGluTyrGluValProGluAlaAlaGlnLeuAlaLeuGluGlnMetAsnSerValMetLeuGlyGlyArgAsnIleLysValGlyArgProSerAsnIleGlyGlnAlaGlnProIleIleAspGlnLeuAlaGluGluAlaArgAlaPheAsnArgIleTyrValAlaSerValHisGlnAspLeuSerAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699498", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.274C>T" }, "RefSeq": { "hgvs": "NM_078480.3:c.274C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Gln92Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Gln92Ter" } } } } ], "type": "nucleotide" }