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}, "referenceSequence": "http://reg.genome.network/refseq/RS295273" }, { "coordinates": [ { "allele": "T", "end": 2669, "referenceAllele": "C", "start": 2668 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000507142.5:c.2089C>T" ], "proteinEffect": { "hgvs": "ENSP00000424757.1:p.Gln697Ter", "hgvsWellDefined": "ENSP00000424757.1:p.Gln697_Glu1286delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS338506" }, { "coordinates": [ { "allele": "T", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000510533.5:c.1873C>T" ], "proteinEffect": { "hgvs": "ENSP00000427653.1:p.Gln625Ter", "hgvsWellDefined": "ENSP00000427653.1:p.Gln625_Glu1214delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341015" }, { "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000511633.5:c.1957C>T" ], "proteinEffect": { "hgvs": "ENSP00000423332.1:p.Gln653Ter", "hgvsWellDefined": "ENSP00000423332.1:p.Gln653_Glu1242delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341855" }, { "coordinates": [ { "allele": "T", "end": 2376, "referenceAllele": "C", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000512193.5:c.1798C>T" ], "proteinEffect": { "hgvs": "ENSP00000424938.1:p.Gln600Ter", "hgvsWellDefined": "ENSP00000424938.1:p.Gln600_Glu1189delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342283" }, { "@id": "http://reg.genome.network/allele/PA2826241885", "coordinates": [ { "allele": "T", "end": 2667, "referenceAllele": "C", "start": 2666 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.1:c.2089C>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Gln697Ter", "hgvsWellDefined": "NP_001186326.1:p.Gln697_Glu1286delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017100" }, { "@id": "http://reg.genome.network/allele/PA2826242278", "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.1:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Gln653Ter", "hgvsWellDefined": "NP_001186327.1:p.Gln653_Glu1242delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017101" }, { "@id": "http://reg.genome.network/allele/PA2826242685", "coordinates": [ { "allele": "T", "end": 2376, "referenceAllele": "C", "start": 2375 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.1:c.1798C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Gln600Ter", "hgvsWellDefined": "NP_001186328.1:p.Gln600_Glu1189delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017102" }, { "@id": "http://reg.genome.network/allele/PA2826243105", "coordinates": [ { "allele": "T", "end": 2529, "referenceAllele": "C", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.1:c.1873C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Gln625Ter", "hgvsWellDefined": "NP_001186329.1:p.Gln625_Glu1214delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017103" }, { "@id": "http://reg.genome.network/allele/PA2829727255", "coordinates": [ { "allele": "T", "end": 2661, "referenceAllele": "C", "start": 2660 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.2:c.2005C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Gln669Ter", "hgvsWellDefined": "NP_036356.1:p.Gln669_Glu1258delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032409" }, { "coordinates": [ { "allele": "T", "end": 2669, "referenceAllele": "C", "start": 2668 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_006714228.1:c.2089C>T" ], "proteinEffect": { "hgvs": "XP_006714291.1:p.Gln697Ter", "hgvsWellDefined": "XP_006714291.1:p.Gln697_Glu1227delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070554" }, { "coordinates": [ { "allele": "T", "end": 2585, "referenceAllele": "C", "start": 2584 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532003.1:c.2005C>T" ], "proteinEffect": { "hgvs": "XP_011530305.1:p.Gln669Ter", "hgvsWellDefined": "XP_011530305.1:p.Gln669_Glu1258delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099032" }, { "coordinates": [ { "allele": "T", "end": 2453, "referenceAllele": "C", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532004.1:c.1873C>T" ], "proteinEffect": { "hgvs": "XP_011530306.1:p.Gln625Ter", "hgvsWellDefined": "XP_011530306.1:p.Gln625_Glu1214delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS679559", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.2089C>T" }, "RefSeq": { "hgvs": "NM_001199397.3:c.2089C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Gln697Ter" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Gln697Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826242278", "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.2:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Gln653Ter", "hgvsWellDefined": "NP_001186327.1:p.Gln653_Glu1242delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679560" }, { "@id": "http://reg.genome.network/allele/PA2826242685", "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.2:c.1798C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Gln600Ter", "hgvsWellDefined": "NP_001186328.1:p.Gln600_Glu1189delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679561" }, { "@id": "http://reg.genome.network/allele/PA2826243105", "coordinates": [ { "allele": "T", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.2:c.1873C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Gln625Ter", "hgvsWellDefined": "NP_001186329.1:p.Gln625_Glu1214delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679562" }, { "@id": "http://reg.genome.network/allele/PA2573072950", "coordinates": [ { "allele": "T", "end": 2701, "referenceAllele": "C", "start": 2700 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374418.1:c.2089C>T" ], "proteinEffect": { "hgvs": "NP_001361347.1:p.Gln697Ter", "hgvsWellDefined": "NP_001361347.1:p.Gln697_Glu1286delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693261" }, { "@id": "http://reg.genome.network/allele/PA2828511550", "coordinates": [ { "allele": "T", "end": 2539, "referenceAllele": "C", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374419.1:c.2005C>T" ], "proteinEffect": { "hgvs": "NP_001361348.1:p.Gln669Ter", "hgvsWellDefined": "NP_001361348.1:p.Gln669_Glu1258delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693262" }, { "@id": "http://reg.genome.network/allele/PA2828511983", "coordinates": [ { "allele": "T", "end": 2488, "referenceAllele": "C", "start": 2487 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374420.1:c.1954C>T" ], "proteinEffect": { "hgvs": "NP_001361349.1:p.Gln652Ter", "hgvsWellDefined": "NP_001361349.1:p.Gln652_Glu1241delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693263" }, { "@id": "http://reg.genome.network/allele/PA2828512392", "coordinates": [ { "allele": "T", "end": 2317, "referenceAllele": "C", "start": 2316 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374421.1:c.1783C>T" ], "proteinEffect": { "hgvs": "NP_001361350.1:p.Gln595Ter", "hgvsWellDefined": "NP_001361350.1:p.Gln595_Glu1125delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693264" }, { "@id": "http://reg.genome.network/allele/PA2829727255", "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.3:c.2005C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Gln669Ter", "hgvsWellDefined": "NP_036356.1:p.Gln669_Glu1258delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697023" }, { "coordinates": [ { "allele": "T", "end": 2551, "referenceAllele": "C", "start": 2550 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NR_164630.1:n.2551C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705747" }, { "@id": "http://reg.genome.network/allele/PA2826242278", "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.3:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Gln653Ter", "hgvsWellDefined": "NP_001186327.1:p.Gln653_Glu1242delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713980" }, { "@id": "http://reg.genome.network/allele/PA2826242685", "coordinates": [ { "allele": "T", "end": 2332, "referenceAllele": "C", "start": 2331 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.3:c.1798C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Gln600Ter", "hgvsWellDefined": "NP_001186328.1:p.Gln600_Glu1189delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713981" }, { "@id": "http://reg.genome.network/allele/PA2826243105", "coordinates": [ { "allele": "T", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.3:c.1873C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Gln625Ter", "hgvsWellDefined": "NP_001186329.1:p.Gln625_Glu1214delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713982" }, { "@id": "http://reg.genome.network/allele/PA2829727255", "coordinates": [ { "allele": "T", "end": 2617, "referenceAllele": "C", "start": 2616 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.4:c.2005C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Gln669Ter", "hgvsWellDefined": "NP_036356.1:p.Gln669_Glu1258delinsMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727853" } ], "type": "nucleotide" }