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}, "referenceSequence": "http://reg.genome.network/refseq/RS911982" }, { "coordinates": [ { "allele": "G", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.6:c.713C>G" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Ser238Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Ser238_Ala559delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS758977", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.713C>G" }, "RefSeq": { "hgvs": "NM_078480.3:c.713C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Ser238Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Ser238Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000313352.11:c.533C>G" ], "proteinEffect": { "hgvs": "ENSP00000322016.7:p.Ser178Ter", "hgvsWellDefined": "ENSP00000322016.7:p.Ser178_Ala499delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256802" }, { "coordinates": [ { "allele": "G", "end": 711, "referenceAllele": "C", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000349157.10:c.662C>G" ], "proteinEffect": { "hgvs": "ENSP00000322036.7:p.Ser221Ter", "hgvsWellDefined": "ENSP00000322036.7:p.Ser221_Ala542delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS262556" }, { "coordinates": [ { "allele": "G", "end": 732, "referenceAllele": "C", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000453551.6:c.584C>G" ], "proteinEffect": { "hgvs": "ENSP00000402953.2:p.Ser195Ter", "hgvsWellDefined": "ENSP00000402953.2:p.Ser195_Ala516delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS302164" }, { "coordinates": [ { "allele": "G", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000456095.6:c.626C>G" ], "proteinEffect": { "hgvs": "ENSP00000395417.2:p.Ser209Ter", "hgvsWellDefined": "ENSP00000395417.2:p.Ser209_Ala530delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303334" }, { "coordinates": [ { "allele": "G", "end": 1399, "referenceAllele": "C", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000524570.5:n.1399C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS350706" }, { "coordinates": [ { "allele": "G", "end": 694, "referenceAllele": "C", "start": 693 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526459.5:c.659C>G" ], "proteinEffect": { "hgvs": "ENSP00000432610.1:p.Ser220Ter", "hgvsWellDefined": "ENSP00000432610.1:p.Ser220_Thr323del" }, "referenceSequence": "http://reg.genome.network/refseq/RS352323" }, { "coordinates": [ { "allele": "G", "end": 1269, "referenceAllele": "C", "start": 1268 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000526683.5:c.713C>G" ], "proteinEffect": { "hgvs": "ENSP00000434359.1:p.Ser238Ter", "hgvsWellDefined": "ENSP00000434359.1:p.Ser238_Ala559delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352505" }, { "coordinates": [ { "allele": "G", "end": 592, "referenceAllele": "C", "start": 591 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527197.5:c.575C>G" ], "proteinEffect": { "hgvs": "ENSP00000431960.1:p.Ser192Ter", "hgvsWellDefined": "ENSP00000431960.1:p.Ser192_Ala513delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS352945" }, { "coordinates": [ { "allele": "G", "end": 706, "referenceAllele": "C", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000527744.5:c.706C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS353391" }, { "coordinates": [ { "allele": "G", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000528320.5:n.842C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS353877" }, { "coordinates": [ { "allele": "G", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000529999.5:c.773C>G" ], "proteinEffect": { "hgvs": "ENSP00000434863.1:p.Ser258Ter", "hgvsWellDefined": "ENSP00000434863.1:p.Ser258_Lys263del" }, "referenceSequence": "http://reg.genome.network/refseq/RS355322" }, { "coordinates": [ { "allele": "G", "end": 873, "referenceAllele": "C", "start": 872 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000531951.5:n.873C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS356955" }, { "coordinates": [ { "allele": "G", "end": 322, "referenceAllele": "C", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "ENST00000532884.1:c.322C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS357736" }, { "@id": "http://reg.genome.network/allele/PA2825813138", "coordinates": [ { "allele": "G", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.2:c.584C>G" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Ser195Ter", "hgvsWellDefined": "NP_001129505.1:p.Ser195_Ala516delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS012577" }, { "@id": "http://reg.genome.network/allele/PA2826532390", "coordinates": [ { "allele": "G", "end": 742, "referenceAllele": "C", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.1:c.659C>G" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Ser220Ter", "hgvsWellDefined": "NP_001258025.1:p.Ser220_Ala541delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020492" }, { "@id": "http://reg.genome.network/allele/PA2826532498", "coordinates": [ { "allele": "G", "end": 658, "referenceAllele": "C", "start": 657 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.1:c.575C>G" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Ser192Ter", "hgvsWellDefined": "NP_001258026.1:p.Ser192_Ala513delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020493" }, { "@id": "http://reg.genome.network/allele/PA2826532616", "coordinates": [ { "allele": "G", "end": 793, "referenceAllele": "C", "start": 792 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.1:c.710C>G" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Ser237Ter", "hgvsWellDefined": "NP_001258027.1:p.Ser237_Ala558delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020494" }, { "@id": "http://reg.genome.network/allele/PA2826532722", "coordinates": [ { "allele": "G", "end": 709, "referenceAllele": "C", "start": 708 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.1:c.626C>G" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Ser209Ter", "hgvsWellDefined": "NP_001258028.1:p.Ser209_Ala530delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020495" }, { "@id": "http://reg.genome.network/allele/PA2826532821", "coordinates": [ { "allele": "G", "end": 764, "referenceAllele": "C", "start": 763 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.1:c.533C>G" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Ser178Ter", "hgvsWellDefined": "NP_001258029.1:p.Ser178_Ala499delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS020496" }, { "@id": "http://reg.genome.network/allele/PA2829756669", "coordinates": [ { "allele": "G", "end": 745, "referenceAllele": "C", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.4:c.662C>G" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Ser221Ter", "hgvsWellDefined": "NP_055096.2:p.Ser221_Ala542delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033043" }, { "@id": "http://reg.genome.network/allele/PA658711211", "coordinates": [ { "allele": "G", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.2:c.713C>G" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Ser238Ter", "hgvsWellDefined": "NP_510965.1:p.Ser238_Ala559delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040121" }, { "coordinates": [ { "allele": "G", "end": 1000, "referenceAllele": "C", "start": 999 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516929.1:c.824C>G" ], "proteinEffect": { "hgvs": "XP_011515231.1:p.Ser275Ter", "hgvsWellDefined": "XP_011515231.1:p.Ser275_Ala596delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084128" }, { "coordinates": [ { "allele": "G", "end": 851, "referenceAllele": "C", "start": 850 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_011516930.1:c.773C>G" ], "proteinEffect": { "hgvs": "XP_011515232.1:p.Ser258Ter", "hgvsWellDefined": "XP_011515232.1:p.Ser258_Ala579delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS084129" }, { "@id": "http://reg.genome.network/allele/PA2828070258", "coordinates": [ { "allele": "G", "end": 967, "referenceAllele": "C", "start": 966 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.1:c.824C>G" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Ser275Ter", "hgvsWellDefined": "NP_001349824.1:p.Ser275_Ala596delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523097" }, { "@id": "http://reg.genome.network/allele/PA916043618", "coordinates": [ { "allele": "G", "end": 1130, "referenceAllele": "C", "start": 1129 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.1:c.824C>G" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Ser275Ter", "hgvsWellDefined": "NP_001349825.1:p.Ser275_Ala596delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523098" }, { "@id": "http://reg.genome.network/allele/PA2828070425", "coordinates": [ { "allele": "G", "end": 916, "referenceAllele": "C", "start": 915 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.1:c.773C>G" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Ser258Ter", "hgvsWellDefined": "NP_001349826.1:p.Ser258_Ala579delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523099" }, { "coordinates": [ { "allele": "G", "end": 2328, "referenceAllele": "C", "start": 2327 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013234.1:c.824C>G" ], "proteinEffect": { "hgvs": "XP_016868723.1:p.Ser275Ter", "hgvsWellDefined": "XP_016868723.1:p.Ser275_Ala596delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566596" }, { "coordinates": [ { "allele": "G", "end": 898, "referenceAllele": "C", "start": 897 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013235.1:c.788C>G" ], "proteinEffect": { "hgvs": "XP_016868724.1:p.Ser263Ter", "hgvsWellDefined": "XP_016868724.1:p.Ser263_Ala584delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566597" }, { "coordinates": [ { "allele": "G", "end": 2277, "referenceAllele": "C", "start": 2276 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013236.1:c.773C>G" ], "proteinEffect": { "hgvs": "XP_016868725.1:p.Ser258Ter", "hgvsWellDefined": "XP_016868725.1:p.Ser258_Ala579delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566598" }, { "coordinates": [ { "allele": "G", "end": 823, "referenceAllele": "C", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013239.1:c.584C>G" ], "proteinEffect": { "hgvs": "XP_016868728.1:p.Ser195Ter", "hgvsWellDefined": "XP_016868728.1:p.Ser195_Ala516delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566599" }, { "coordinates": [ { "allele": "G", "end": 772, "referenceAllele": "C", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "XM_017013240.1:c.533C>G" ], "proteinEffect": { "hgvs": "XP_016868729.1:p.Ser178Ter", "hgvsWellDefined": "XP_016868729.1:p.Ser178_Ala499delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS566600" }, { "@id": "http://reg.genome.network/allele/PA2825813138", "coordinates": [ { "allele": "G", "end": 747, "referenceAllele": "C", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001136033.3:c.584C>G" ], "proteinEffect": { "hgvs": "NP_001129505.1:p.Ser195Ter", "hgvsWellDefined": "NP_001129505.1:p.Ser195_Ala516delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677385" }, { "@id": "http://reg.genome.network/allele/PA2826532390", "coordinates": [ { "allele": "G", "end": 671, "referenceAllele": "C", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271096.2:c.659C>G" ], "proteinEffect": { "hgvs": "NP_001258025.1:p.Ser220Ter", "hgvsWellDefined": "NP_001258025.1:p.Ser220_Ala541delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681114" }, { "@id": "http://reg.genome.network/allele/PA2826532498", "coordinates": [ { "allele": "G", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271097.2:c.575C>G" ], "proteinEffect": { "hgvs": "NP_001258026.1:p.Ser192Ter", "hgvsWellDefined": "NP_001258026.1:p.Ser192_Ala513delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681115" }, { "@id": "http://reg.genome.network/allele/PA2826532616", "coordinates": [ { "allele": "G", "end": 722, "referenceAllele": "C", "start": 721 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271098.2:c.710C>G" ], "proteinEffect": { "hgvs": "NP_001258027.1:p.Ser237Ter", "hgvsWellDefined": "NP_001258027.1:p.Ser237_Ala558delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681116" }, { "@id": "http://reg.genome.network/allele/PA2826532722", "coordinates": [ { "allele": "G", "end": 638, "referenceAllele": "C", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271099.2:c.626C>G" ], "proteinEffect": { "hgvs": "NP_001258028.1:p.Ser209Ter", "hgvsWellDefined": "NP_001258028.1:p.Ser209_Ala530delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681117" }, { "@id": "http://reg.genome.network/allele/PA2826532821", "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "C", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001271100.2:c.533C>G" ], "proteinEffect": { "hgvs": "NP_001258029.1:p.Ser178Ter", "hgvsWellDefined": "NP_001258029.1:p.Ser178_Ala499delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681118" }, { "@id": "http://reg.genome.network/allele/PA2828070258", "coordinates": [ { "allele": "G", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362895.2:c.824C>G" ], "proteinEffect": { "hgvs": "NP_001349824.1:p.Ser275Ter", "hgvsWellDefined": "NP_001349824.1:p.Ser275_Ala596delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690565" }, { "@id": "http://reg.genome.network/allele/PA916043618", "coordinates": [ { "allele": "G", "end": 1062, "referenceAllele": "C", "start": 1061 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362896.2:c.824C>G" ], "proteinEffect": { "hgvs": "NP_001349825.1:p.Ser275Ter", "hgvsWellDefined": "NP_001349825.1:p.Ser275_Ala596delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690566" }, { "@id": "http://reg.genome.network/allele/PA2828070425", "coordinates": [ { "allele": "G", "end": 848, "referenceAllele": "C", "start": 847 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_001362897.2:c.773C>G" ], "proteinEffect": { "hgvs": "NP_001349826.1:p.Ser258Ter", "hgvsWellDefined": "NP_001349826.1:p.Ser258_Ala579delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690567" }, { "@id": "http://reg.genome.network/allele/PA2829756669", "coordinates": [ { "allele": "G", "end": 674, "referenceAllele": "C", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_014281.5:c.662C>G" ], "proteinEffect": { "hgvs": "NP_055096.2:p.Ser221Ter", "hgvsWellDefined": "NP_055096.2:p.Ser221_Ala542delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697222" }, { "@id": "http://reg.genome.network/allele/PA658711211", "coordinates": [ { "allele": "G", "end": 725, "referenceAllele": "C", "start": 724 } ], "gene": "http://reg.genome.network/gene/GN017042", "geneNCBI_id": 22827, "geneSymbol": "PUF60", "hgvs": [ "NM_078480.3:c.713C>G" ], "proteinEffect": { "hgvs": "NP_510965.1:p.Ser238Ter", "hgvsWellDefined": "NP_510965.1:p.Ser238_Ala559delinsAspAspAspIleLysSerValPheGluAlaPheGlyLysIleLysSerCysThrLeuAlaArgAspProThrThrGlyLysHisLysGlyTyrGlyPheIleGluTyrGluLysAlaGlnSerSerGlnAspAlaValSerSerMetAsnLeuPheAspLeuGlyGlyGlnTyrLeuArgValGlyLysAlaValThrProProMetProLeuLeuThrProAlaThrProGlyGlyLeuProProAlaAlaAlaValAlaAlaAlaAlaAlaThrAlaLysIleThrAlaGlnGluAlaValAlaGlyAlaAlaValLeuGlyThrLeuGlyThrProGlyLeuValSerProAlaLeuThrLeuAlaGlnProLeuGlyThrLeuProGlnAlaValMetAlaAlaGlnAlaProGlyValIleThrGlyValThrProAlaArgProProIleProValThrIleProSerValGlyValValAsnProIleLeuAlaSerProProThrLeuGlyLeuLeuGluProLysLysGluLysGluGluGluGluLeuPheProGluSerGluArgProGluMetLeuSerGluGlnGluHisMetSerIleSerGlySerSerAlaArgHisMetValMetGlnLysLeuLeuArgLysGlnGluSerThrValMetValLeuArgAsnMetValAspProLysAspIleAspAspAspLeuGluGlyGluValThrGluGluCysGlyLysPheGlyAlaValAsnArgValIleIleTyrGlnGluLysGlnGlyGluGluGluAspAlaGluIleIleValLysIlePheValGluPheSerIleAlaSerGluThrHisLysAlaIleGlnAlaLeuAsnGlyArgTrpPheAlaGlyArgLysValValAlaGluValTyrAspGlnGluArgPheAspAsnSerAspLeuSerAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699498", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000526683.6:c.713C>G" }, "RefSeq": { "hgvs": "NM_078480.3:c.713C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000434359.1:p.Ser238Ter" }, "RefSeq": { "hgvs": "NP_510965.1:p.Ser238Ter" } } } } ], "type": "nucleotide" }