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"ENSP00000408020.2:p.Arg550_Glu1258delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS295273" }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000507142.5:c.1648C>T" ], "proteinEffect": { "hgvs": "ENSP00000424757.1:p.Arg550Ter", "hgvsWellDefined": "ENSP00000424757.1:p.Arg550_Glu1286delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS338506" }, { "coordinates": [ { "allele": "T", "end": 2128, "referenceAllele": "C", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000510533.5:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000427653.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000427653.1:p.Arg506_Glu1214delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341015" }, { "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000511633.5:c.1516C>T" ], "proteinEffect": { "hgvs": "ENSP00000423332.1:p.Arg506Ter", "hgvsWellDefined": "ENSP00000423332.1:p.Arg506_Glu1242delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341855" }, { "coordinates": [ { "allele": "T", "end": 2019, "referenceAllele": "C", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000512193.5:c.1441C>T" ], "proteinEffect": { "hgvs": "ENSP00000424938.1:p.Arg481Ter", "hgvsWellDefined": "ENSP00000424938.1:p.Arg481_Glu1189delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342283" }, { "@id": "http://reg.genome.network/allele/PA658688800", "coordinates": [ { "allele": "T", "end": 2226, "referenceAllele": "C", "start": 2225 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.1:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Arg550Ter", "hgvsWellDefined": "NP_001186326.1:p.Arg550_Glu1286delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017100" }, { "@id": "http://reg.genome.network/allele/PA2826242219", "coordinates": [ { "allele": "T", "end": 2094, "referenceAllele": "C", "start": 2093 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.1:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg506Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg506_Glu1242delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017101" }, { "@id": "http://reg.genome.network/allele/PA2826242627", "coordinates": [ { "allele": "T", "end": 2019, "referenceAllele": "C", "start": 2018 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.1:c.1441C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg481Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg481_Glu1189delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017102" }, { "@id": "http://reg.genome.network/allele/PA2826243047", "coordinates": [ { "allele": "T", "end": 2172, "referenceAllele": "C", "start": 2171 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.1:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg506Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg506_Glu1214delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017103" }, { "@id": "http://reg.genome.network/allele/PA916004351", "coordinates": [ { "allele": "T", "end": 2304, "referenceAllele": "C", "start": 2303 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.2:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg550Ter", "hgvsWellDefined": "NP_036356.1:p.Arg550_Glu1258delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032409" }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_006714228.1:c.1648C>T" ], "proteinEffect": { "hgvs": "XP_006714291.1:p.Arg550Ter", "hgvsWellDefined": "XP_006714291.1:p.Arg550_Glu1227delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070554" }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532003.1:c.1648C>T" ], "proteinEffect": { "hgvs": "XP_011530305.1:p.Arg550Ter", "hgvsWellDefined": "XP_011530305.1:p.Arg550_Glu1258delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099032" }, { "coordinates": [ { "allele": "T", "end": 2096, "referenceAllele": "C", "start": 2095 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532004.1:c.1516C>T" ], "proteinEffect": { "hgvs": "XP_011530306.1:p.Arg506Ter", "hgvsWellDefined": "XP_011530306.1:p.Arg506_Glu1214delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099033" }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.1:c.1648C>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Arg550Ter", "hgvsWellDefined": "XP_011530307.1:p.Arg550_Cys715delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099034" }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.2:c.1648C>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Arg550Ter", "hgvsWellDefined": "XP_011530307.1:p.Arg550_Cys715delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550648" }, { "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "C", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008249.1:c.1027C>T" ], "proteinEffect": { "hgvs": "XP_016863738.1:p.Arg343Ter", "hgvsWellDefined": "XP_016863738.1:p.Arg343_Glu1079delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562791" }, { "coordinates": [ { "allele": "T", "end": 2130, "referenceAllele": "C", "start": 2129 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008251.1:c.1027C>T" ], "proteinEffect": { "hgvs": "XP_016863740.1:p.Arg343Ter", "hgvsWellDefined": "XP_016863740.1:p.Arg343_Glu1051delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562792" }, { "coordinates": [ { "allele": "T", "end": 2020, "referenceAllele": "C", "start": 2019 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008252.2:c.1027C>T" ], "proteinEffect": { "hgvs": "XP_016863741.1:p.Arg343Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS562793" }, { "coordinates": [ { "allele": "T", "end": 2076, "referenceAllele": "C", "start": 2075 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008253.1:c.496C>T" ], "proteinEffect": { "hgvs": "XP_016863742.1:p.Arg166Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS562794" }, { "coordinates": [ { "allele": "T", "end": 1186, "referenceAllele": "C", "start": 1185 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008254.1:c.292C>T" ], "proteinEffect": { "hgvs": "XP_016863743.1:p.Arg98Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS562795" }, { "coordinates": [ { "allele": "T", "end": 2173, "referenceAllele": "C", "start": 2172 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_024454065.1:c.1027C>T" ], "proteinEffect": { "hgvs": "XP_024309833.1:p.Arg343Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS587435" }, { "coordinates": [ { "allele": "T", "end": 2228, "referenceAllele": "C", "start": 2227 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741233.1:n.2228C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591266" }, { "coordinates": [ { "allele": "T", "end": 2041, "referenceAllele": "C", "start": 2040 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741234.2:n.2041C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591267" }, { "@id": "http://reg.genome.network/allele/PA658688800", "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.3:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Arg550Ter", "hgvsWellDefined": "NP_001186326.1:p.Arg550_Glu1286delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679559", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.1648C>T" }, "RefSeq": { "hgvs": "NM_001199397.3:c.1648C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Arg550Ter" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Arg550Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826242219", "coordinates": [ { "allele": "T", "end": 2050, "referenceAllele": "C", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.2:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg506Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg506_Glu1242delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679560" }, { "@id": "http://reg.genome.network/allele/PA2826242627", "coordinates": [ { "allele": "T", "end": 1975, "referenceAllele": "C", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.2:c.1441C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg481Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg481_Glu1189delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679561" }, { "@id": "http://reg.genome.network/allele/PA2826243047", "coordinates": [ { "allele": "T", "end": 2128, "referenceAllele": "C", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.2:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg506Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg506_Glu1214delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679562" }, { "@id": "http://reg.genome.network/allele/PA2828511189", "coordinates": [ { "allele": "T", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374418.1:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_001361347.1:p.Arg550Ter", "hgvsWellDefined": "NP_001361347.1:p.Arg550_Glu1286delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693261" }, { "@id": "http://reg.genome.network/allele/PA2828511492", "coordinates": [ { "allele": "T", "end": 2182, "referenceAllele": "C", "start": 2181 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374419.1:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_001361348.1:p.Arg550Ter", "hgvsWellDefined": "NP_001361348.1:p.Arg550_Glu1258delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693262" }, { "@id": "http://reg.genome.network/allele/PA2828511925", "coordinates": [ { "allele": "T", "end": 2131, "referenceAllele": "C", "start": 2130 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374420.1:c.1597C>T" ], "proteinEffect": { "hgvs": "NP_001361349.1:p.Arg533Ter", "hgvsWellDefined": "NP_001361349.1:p.Arg533_Glu1241delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693263" }, { "@id": "http://reg.genome.network/allele/PA2828512349", "coordinates": [ { "allele": "T", "end": 2056, "referenceAllele": "C", "start": 2055 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374421.1:c.1522C>T" ], "proteinEffect": { "hgvs": "NP_001361350.1:p.Arg508Ter", "hgvsWellDefined": "NP_001361350.1:p.Arg508_Glu1125delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693264" }, { "@id": "http://reg.genome.network/allele/PA916004351", "coordinates": [ { "allele": "T", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.3:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg550Ter", "hgvsWellDefined": "NP_036356.1:p.Arg550_Glu1258delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697023" }, { "coordinates": [ { "allele": "T", "end": 2194, "referenceAllele": "C", "start": 2193 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NR_164630.1:n.2194C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705747" }, { "@id": "http://reg.genome.network/allele/PA2826242219", "coordinates": [ { "allele": "T", "end": 2050, "referenceAllele": "C", "start": 2049 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.3:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg506Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg506_Glu1242delinsAlaGluGlyHisMetGlyIleLeuGlnAsnLeuAlaAlaMetTyrGlyGlyArgProSerSerSerArgGlyGlyLysProArgAsnLysGluGluGluValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713980" }, { "@id": "http://reg.genome.network/allele/PA2826242627", "coordinates": [ { "allele": "T", "end": 1975, "referenceAllele": "C", "start": 1974 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.3:c.1441C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg481Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg481_Glu1189delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713981" }, { "@id": "http://reg.genome.network/allele/PA2826243047", "coordinates": [ { "allele": "T", "end": 2128, "referenceAllele": "C", "start": 2127 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.3:c.1516C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg506Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg506_Glu1214delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713982" }, { "@id": "http://reg.genome.network/allele/PA916004351", "coordinates": [ { "allele": "T", "end": 2260, "referenceAllele": "C", "start": 2259 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.4:c.1648C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg550Ter", "hgvsWellDefined": "NP_036356.1:p.Arg550_Glu1258delinsAlaGluGlyHisMetValTyrLeuAlaArgLeuArgGlnIleArgLeuGlnAsnPheAsnGluArgGlnGlnIleLysAlaLysLeuArgGlyGluLysLysGluAlaAsnHisSerGluGlyGlnGluGlySerGluGluAlaAspMetArgArgLysLysIleGluSerLeuLysAlaHisAlaAsnAlaArgAlaAlaValLeuLysGluGlnLeuGluArgLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727853" } ], "type": "nucleotide" }