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}, "referenceSequence": "http://reg.genome.network/refseq/RS758106", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.1606G>T" }, "RefSeq": { "hgvs": "NM_001199397.3:c.1606G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Glu536Ter" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Glu536Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2247, "referenceAllele": "G", "start": 2246 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000439128.6:c.1606G>T" ], "proteinEffect": { "hgvs": "ENSP00000408020.2:p.Glu536Ter", "hgvsWellDefined": "ENSP00000408020.2:p.Glu536_Glu1258delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295273" }, { "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000507142.5:c.1606G>T" ], "proteinEffect": { "hgvs": "ENSP00000424757.1:p.Glu536Ter", "hgvsWellDefined": "ENSP00000424757.1:p.Glu536_Glu1286delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS338506" }, { "coordinates": [ { "allele": "T", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000510533.5:c.1474G>T" ], "proteinEffect": { "hgvs": "ENSP00000427653.1:p.Glu492Ter", "hgvsWellDefined": "ENSP00000427653.1:p.Glu492_Glu1214delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341015" }, { "coordinates": [ { "allele": "T", "end": 2052, "referenceAllele": "G", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000511633.5:c.1474G>T" ], "proteinEffect": { "hgvs": "ENSP00000423332.1:p.Glu492Ter", "hgvsWellDefined": "ENSP00000423332.1:p.Glu492_Glu1242delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341855" }, { "coordinates": [ { "allele": "T", "end": 1977, "referenceAllele": "G", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000512193.5:c.1399G>T" ], "proteinEffect": { "hgvs": "ENSP00000424938.1:p.Glu467Ter", "hgvsWellDefined": "ENSP00000424938.1:p.Glu467_Glu1189delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342283" }, { "@id": "http://reg.genome.network/allele/PA2826241823", "coordinates": [ { "allele": "T", "end": 2184, "referenceAllele": "G", "start": 2183 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.1:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Glu536Ter", "hgvsWellDefined": "NP_001186326.1:p.Glu536_Glu1286delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017100" }, { "@id": "http://reg.genome.network/allele/PA2826242209", "coordinates": [ { "allele": "T", "end": 2052, "referenceAllele": "G", "start": 2051 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.1:c.1474G>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Glu492Ter", "hgvsWellDefined": "NP_001186327.1:p.Glu492_Glu1242delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017101" }, { "@id": "http://reg.genome.network/allele/PA2826242617", "coordinates": [ { "allele": "T", "end": 1977, "referenceAllele": "G", "start": 1976 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.1:c.1399G>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Glu467Ter", "hgvsWellDefined": "NP_001186328.1:p.Glu467_Glu1189delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017102" }, { "@id": "http://reg.genome.network/allele/PA2826243037", "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "G", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.1:c.1474G>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Glu492Ter", "hgvsWellDefined": "NP_001186329.1:p.Glu492_Glu1214delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017103" }, { "@id": "http://reg.genome.network/allele/PA2580373612", "coordinates": [ { "allele": "T", "end": 2262, "referenceAllele": "G", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.2:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Glu536Ter", "hgvsWellDefined": "NP_036356.1:p.Glu536_Glu1258delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032409" }, { "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_006714228.1:c.1606G>T" ], "proteinEffect": { "hgvs": "XP_006714291.1:p.Glu536Ter", "hgvsWellDefined": "XP_006714291.1:p.Glu536_Glu1227delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070554" }, { "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532003.1:c.1606G>T" ], "proteinEffect": { "hgvs": "XP_011530305.1:p.Glu536Ter", "hgvsWellDefined": "XP_011530305.1:p.Glu536_Glu1258delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099032" }, { "coordinates": [ { "allele": "T", "end": 2054, "referenceAllele": "G", "start": 2053 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532004.1:c.1474G>T" ], "proteinEffect": { "hgvs": "XP_011530306.1:p.Glu492Ter", "hgvsWellDefined": "XP_011530306.1:p.Glu492_Glu1214delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099033" }, { "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.1:c.1606G>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Glu536Ter", "hgvsWellDefined": "XP_011530307.1:p.Glu536_Cys715delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099034" }, { "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.2:c.1606G>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Glu536Ter", "hgvsWellDefined": "XP_011530307.1:p.Glu536_Cys715delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550648" }, { "coordinates": [ { "allele": "T", "end": 2088, "referenceAllele": "G", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008249.1:c.985G>T" ], "proteinEffect": { "hgvs": "XP_016863738.1:p.Glu329Ter", "hgvsWellDefined": "XP_016863738.1:p.Glu329_Glu1079delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562791" }, { "coordinates": [ { "allele": "T", "end": 2088, "referenceAllele": "G", "start": 2087 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008251.1:c.985G>T" ], "proteinEffect": { "hgvs": "XP_016863740.1:p.Glu329Ter", "hgvsWellDefined": "XP_016863740.1:p.Glu329_Glu1051delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562792" }, { "coordinates": [ { "allele": "T", "end": 1978, "referenceAllele": "G", "start": 1977 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008252.2:c.985G>T" ], "proteinEffect": { "hgvs": "XP_016863741.1:p.Glu329Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS562793" }, { "coordinates": [ { "allele": "T", "end": 2034, "referenceAllele": "G", "start": 2033 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008253.1:c.454G>T" ], "proteinEffect": { "hgvs": "XP_016863742.1:p.Glu152Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS562794" }, { "coordinates": [ { "allele": "T", "end": 1144, "referenceAllele": "G", "start": 1143 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008254.1:c.250G>T" ], "proteinEffect": { "hgvs": "XP_016863743.1:p.Glu84Ter", "hgvsWellDefined": "XP_016863743.1:p.Glu84_Glu834delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562795" }, { "coordinates": [ { "allele": "T", "end": 2131, "referenceAllele": "G", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_024454065.1:c.985G>T" ], "proteinEffect": { "hgvs": "XP_024309833.1:p.Glu329Ter", "hgvsWellDefined": "XP_024309833.1:p.Glu329_Glu1079delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587435" }, { "coordinates": [ { "allele": "T", "end": 2186, "referenceAllele": "G", "start": 2185 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741233.1:n.2186G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591266" }, { "coordinates": [ { "allele": "T", "end": 1999, "referenceAllele": "G", "start": 1998 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741234.2:n.1999G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591267" }, { "@id": "http://reg.genome.network/allele/PA2826241823", "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "G", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.3:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Glu536Ter", "hgvsWellDefined": "NP_001186326.1:p.Glu536_Glu1286delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679559", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.1606G>T" }, "RefSeq": { "hgvs": "NM_001199397.3:c.1606G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Glu536Ter" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Glu536Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826242209", "coordinates": [ { "allele": "T", "end": 2008, "referenceAllele": "G", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.2:c.1474G>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Glu492Ter", "hgvsWellDefined": "NP_001186327.1:p.Glu492_Glu1242delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679560" }, { "@id": "http://reg.genome.network/allele/PA2826242617", "coordinates": [ { "allele": "T", "end": 1933, "referenceAllele": "G", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.2:c.1399G>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Glu467Ter", "hgvsWellDefined": "NP_001186328.1:p.Glu467_Glu1189delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679561" }, { "@id": "http://reg.genome.network/allele/PA2826243037", "coordinates": [ { "allele": "T", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.2:c.1474G>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Glu492Ter", "hgvsWellDefined": "NP_001186329.1:p.Glu492_Glu1214delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679562" }, { "@id": "http://reg.genome.network/allele/PA2828511179", "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "G", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374418.1:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_001361347.1:p.Glu536Ter", "hgvsWellDefined": "NP_001361347.1:p.Glu536_Glu1286delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693261" }, { "@id": "http://reg.genome.network/allele/PA2828511482", "coordinates": [ { "allele": "T", "end": 2140, "referenceAllele": "G", "start": 2139 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374419.1:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_001361348.1:p.Glu536Ter", "hgvsWellDefined": "NP_001361348.1:p.Glu536_Glu1258delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693262" }, { "@id": "http://reg.genome.network/allele/PA2828511915", "coordinates": [ { "allele": "T", "end": 2089, "referenceAllele": "G", "start": 2088 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374420.1:c.1555G>T" ], "proteinEffect": { "hgvs": "NP_001361349.1:p.Glu519Ter", "hgvsWellDefined": "NP_001361349.1:p.Glu519_Glu1241delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693263" }, { "@id": "http://reg.genome.network/allele/PA2828512340", "coordinates": [ { "allele": "T", "end": 2014, "referenceAllele": "G", "start": 2013 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374421.1:c.1480G>T" ], "proteinEffect": { "hgvs": "NP_001361350.1:p.Glu494Ter", "hgvsWellDefined": "NP_001361350.1:p.Glu494_Glu1125delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693264" }, { "@id": "http://reg.genome.network/allele/PA2580373612", "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "G", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.3:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Glu536Ter", "hgvsWellDefined": "NP_036356.1:p.Glu536_Glu1258delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697023" }, { "coordinates": [ { "allele": "T", "end": 2152, "referenceAllele": "G", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NR_164630.1:n.2152G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705747" }, { "@id": "http://reg.genome.network/allele/PA2826242209", "coordinates": [ { "allele": "T", "end": 2008, "referenceAllele": "G", "start": 2007 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.3:c.1474G>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Glu492Ter", "hgvsWellDefined": "NP_001186327.1:p.Glu492_Glu1242delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713980" }, { "@id": "http://reg.genome.network/allele/PA2826242617", "coordinates": [ { "allele": "T", "end": 1933, "referenceAllele": "G", "start": 1932 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.3:c.1399G>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Glu467Ter", "hgvsWellDefined": "NP_001186328.1:p.Glu467_Glu1189delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713981" }, { "@id": "http://reg.genome.network/allele/PA2826243037", "coordinates": [ { "allele": "T", "end": 2086, "referenceAllele": "G", "start": 2085 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.3:c.1474G>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Glu492Ter", "hgvsWellDefined": "NP_001186329.1:p.Glu492_Glu1214delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713982" }, { "@id": "http://reg.genome.network/allele/PA2580373612", "coordinates": [ { "allele": "T", "end": 2218, "referenceAllele": "G", "start": 2217 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.4:c.1606G>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Glu536Ter", "hgvsWellDefined": "NP_036356.1:p.Glu536_Glu1258delinsPheLeuGlnArgLysArgGluAlaMetGlnAsnLysAlaArgAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727853" } ], "type": "nucleotide" }