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"ENSP00000424757.1:p.Arg653_Glu1286delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS338506" }, { "coordinates": [ { "allele": "T", "end": 2353, "referenceAllele": "C", "start": 2352 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000510533.5:c.1741C>T" ], "proteinEffect": { "hgvs": "ENSP00000427653.1:p.Arg581Ter", "hgvsWellDefined": "ENSP00000427653.1:p.Arg581_Glu1214delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341015" }, { "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000511633.5:c.1825C>T" ], "proteinEffect": { "hgvs": "ENSP00000423332.1:p.Arg609Ter", "hgvsWellDefined": "ENSP00000423332.1:p.Arg609_Glu1242delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS341855" }, { "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "ENST00000512193.5:c.1666C>T" ], "proteinEffect": { "hgvs": "ENSP00000424938.1:p.Arg556Ter", "hgvsWellDefined": "ENSP00000424938.1:p.Arg556_Glu1189delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342283" }, { "@id": "http://reg.genome.network/allele/PA2826241870", "coordinates": [ { "allele": "T", "end": 2535, "referenceAllele": "C", "start": 2534 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.1:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Arg653Ter", "hgvsWellDefined": "NP_001186326.1:p.Arg653_Glu1286delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017100" }, { "@id": "http://reg.genome.network/allele/PA2826242263", "coordinates": [ { "allele": "T", "end": 2403, "referenceAllele": "C", "start": 2402 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.1:c.1825C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg609Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg609_Glu1242delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017101" }, { "@id": "http://reg.genome.network/allele/PA2826242670", "coordinates": [ { "allele": "T", "end": 2244, "referenceAllele": "C", "start": 2243 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.1:c.1666C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg556Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg556_Glu1189delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017102" }, { "@id": "http://reg.genome.network/allele/PA2826243090", "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.1:c.1741C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg581Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg581_Glu1214delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS017103" }, { "@id": "http://reg.genome.network/allele/PA2829727240", "coordinates": [ { "allele": "T", "end": 2529, "referenceAllele": "C", "start": 2528 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.2:c.1873C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg625Ter", "hgvsWellDefined": "NP_036356.1:p.Arg625_Glu1258delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032409" }, { "coordinates": [ { "allele": "T", "end": 2537, "referenceAllele": "C", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_006714228.1:c.1957C>T" ], "proteinEffect": { "hgvs": "XP_006714291.1:p.Arg653Ter", "hgvsWellDefined": "XP_006714291.1:p.Arg653_Glu1227delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS070554" }, { "coordinates": [ { "allele": "T", "end": 2453, "referenceAllele": "C", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532003.1:c.1873C>T" ], "proteinEffect": { "hgvs": "XP_011530305.1:p.Arg625Ter", "hgvsWellDefined": "XP_011530305.1:p.Arg625_Glu1258delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099032" }, { "coordinates": [ { "allele": "T", "end": 2321, "referenceAllele": "C", "start": 2320 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532004.1:c.1741C>T" ], "proteinEffect": { "hgvs": "XP_011530306.1:p.Arg581Ter", "hgvsWellDefined": "XP_011530306.1:p.Arg581_Glu1214delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099033" }, { "coordinates": [ { "allele": "T", "end": 2537, "referenceAllele": "C", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.1:c.1957C>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Arg653Ter", "hgvsWellDefined": "XP_011530307.1:p.Arg653_Cys715delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099034" }, { "coordinates": [ { "allele": "T", "end": 2537, "referenceAllele": "C", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_011532005.2:c.1957C>T" ], "proteinEffect": { "hgvs": "XP_011530307.1:p.Arg653Ter", "hgvsWellDefined": "XP_011530307.1:p.Arg653_Cys715delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550648" }, { "coordinates": [ { "allele": "T", "end": 2439, "referenceAllele": "C", "start": 2438 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_017008249.1:c.1336C>T" ], "proteinEffect": { "hgvs": "XP_016863738.1:p.Arg446Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS562795" }, { "coordinates": [ { "allele": "T", "end": 2482, "referenceAllele": "C", "start": 2481 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XM_024454065.1:c.1336C>T" ], "proteinEffect": { "hgvs": "XP_024309833.1:p.Arg446Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS587435" }, { "coordinates": [ { "allele": "T", "end": 2537, "referenceAllele": "C", "start": 2536 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741233.1:n.2537C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591266" }, { "coordinates": [ { "allele": "T", "end": 2350, "referenceAllele": "C", "start": 2349 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "XR_001741234.2:n.2350C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591267" }, { "@id": "http://reg.genome.network/allele/PA2826241870", "coordinates": [ { "allele": "T", "end": 2491, "referenceAllele": "C", "start": 2490 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199397.3:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001186326.1:p.Arg653Ter", "hgvsWellDefined": "NP_001186326.1:p.Arg653_Glu1286delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679559", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000507142.6:c.1957C>T" }, "RefSeq": { "hgvs": "NM_001199397.3:c.1957C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000424757.2:p.Arg653Ter" }, "RefSeq": { "hgvs": "NP_001186326.1:p.Arg653Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826242263", "coordinates": [ { "allele": "T", "end": 2359, "referenceAllele": "C", "start": 2358 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.2:c.1825C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg609Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg609_Glu1242delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679560" }, { "@id": "http://reg.genome.network/allele/PA2826242670", "coordinates": [ { "allele": "T", "end": 2200, "referenceAllele": "C", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.2:c.1666C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg556Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg556_Glu1189delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679561" }, { "@id": "http://reg.genome.network/allele/PA2826243090", "coordinates": [ { "allele": "T", "end": 2353, "referenceAllele": "C", "start": 2352 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.2:c.1741C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg581Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg581_Glu1214delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS679562" }, { "@id": "http://reg.genome.network/allele/PA2573072949", "coordinates": [ { "allele": "T", "end": 2569, "referenceAllele": "C", "start": 2568 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374418.1:c.1957C>T" ], "proteinEffect": { "hgvs": "NP_001361347.1:p.Arg653Ter", "hgvsWellDefined": "NP_001361347.1:p.Arg653_Glu1286delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693261" }, { "@id": "http://reg.genome.network/allele/PA2828511535", "coordinates": [ { "allele": "T", "end": 2407, "referenceAllele": "C", "start": 2406 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374419.1:c.1873C>T" ], "proteinEffect": { "hgvs": "NP_001361348.1:p.Arg625Ter", "hgvsWellDefined": "NP_001361348.1:p.Arg625_Glu1258delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693262" }, { "@id": "http://reg.genome.network/allele/PA2828511968", "coordinates": [ { "allele": "T", "end": 2356, "referenceAllele": "C", "start": 2355 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374420.1:c.1822C>T" ], "proteinEffect": { "hgvs": "NP_001361349.1:p.Arg608Ter", "hgvsWellDefined": "NP_001361349.1:p.Arg608_Glu1241delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693263" }, { "coordinates": [ { "allele": "T", "end": 2235, "endIntronDirection": "+", "endIntronOffset": 628, "referenceAllele": "C", "start": 2235, "startIntronDirection": "+", "startIntronOffset": 627 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001374421.1:c.1701+628C>T" ], "proteinEffect": { "hgvs": "NP_001361350.1:n.1701+628C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS693264" }, { "@id": "http://reg.genome.network/allele/PA2829727240", "coordinates": [ { "allele": "T", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.3:c.1873C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg625Ter", "hgvsWellDefined": "NP_036356.1:p.Arg625_Glu1258delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697023" }, { "coordinates": [ { "allele": "T", "end": 2419, "referenceAllele": "C", "start": 2418 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NR_164630.1:n.2419C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS705747" }, { "@id": "http://reg.genome.network/allele/PA2826242263", "coordinates": [ { "allele": "T", "end": 2359, "referenceAllele": "C", "start": 2358 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199398.3:c.1825C>T" ], "proteinEffect": { "hgvs": "NP_001186327.1:p.Arg609Ter", "hgvsWellDefined": "NP_001186327.1:p.Arg609_Glu1242delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713980" }, { "@id": "http://reg.genome.network/allele/PA2826242670", "coordinates": [ { "allele": "T", "end": 2200, "referenceAllele": "C", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199399.3:c.1666C>T" ], "proteinEffect": { "hgvs": "NP_001186328.1:p.Arg556Ter", "hgvsWellDefined": "NP_001186328.1:p.Arg556_Glu1189delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713981" }, { "@id": "http://reg.genome.network/allele/PA2826243090", "coordinates": [ { "allele": "T", "end": 2353, "referenceAllele": "C", "start": 2352 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_001199400.3:c.1741C>T" ], "proteinEffect": { "hgvs": "NP_001186329.1:p.Arg581Ter", "hgvsWellDefined": "NP_001186329.1:p.Arg581_Glu1214delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713982" }, { "@id": "http://reg.genome.network/allele/PA2829727240", "coordinates": [ { "allele": "T", "end": 2485, "referenceAllele": "C", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN007744", "geneNCBI_id": 4750, "geneSymbol": "NEK1", "hgvs": [ "NM_012224.4:c.1873C>T" ], "proteinEffect": { "hgvs": "NP_036356.1:p.Arg625Ter", "hgvsWellDefined": "NP_036356.1:p.Arg625_Glu1258delinsLysArgLysGluAlaTyrGluArgGluLysLysValTrpGluGluHisLeuValAlaLysGlyValLysSerSerAspValSerProProLeuGlyGlnHisGluThrGlyGlySerProSerLysGlnGlnMetArgSerValIleSerValThrSerAlaLeuLysGluValGlyValAspSerSerLeuThrAspThrArgGluThrSerGluGluMetGlnLysThrAsnAsnAlaIleSerSerLysArgGluIleLeuArgArgLeuAsnGluAsnLeuLysAlaGlnGluAspGluLysGlyLysGlnAsnLeuSerAspThrPheGluIleAsnValHisGluAspAlaLysGluHisGluLysGluLysSerValSerSerAspArgLysLysTrpGluAlaGlyGlyGlnLeuValIleProLeuAspGluLeuThrLeuAspThrSerPheSerThrThrGluArgHisThrValGlyGluValIleLysLeuGlyProAsnGlySerProArgArgAlaTrpGlyLysSerProThrAspSerValLeuLysIleLeuGlyGluAlaGluLeuGlnLeuGlnThrGluLeuLeuGluAsnThrThrIleArgSerGluIleSerProGluGlyGluLysTyrLysProLeuIleThrGlyGluLysLysValGlnCysIleSerHisGluIleAsnProSerAlaIleValAspSerProValGluThrLysSerProGluPheSerGluAlaSerProGlnMetSerLeuLysLeuGluGlyAsnLeuGluGluProAspAspLeuGluThrGluIleLeuGlnGluProSerGlyThrAsnLysAspGluSerLeuProCysThrIleThrAspValTrpIleSerGluGluLysGluThrLysGluThrGlnSerAlaAspArgIleThrIleGlnGluAsnGluValSerGluAspGlyValSerSerThrValAspGlnLeuSerAspIleHisIleGluProGlyThrAsnAspSerGlnHisSerLysCysAspValAspLysSerValGlnProGluProPhePheHisLysValValHisSerGluHisLeuAsnLeuValProGlnValGlnSerValGlnCysSerProGluGluSerPheAlaPheArgSerHisSerHisLeuProProLysAsnLysAsnLysAsnSerLeuLeuIleGlyLeuSerThrGlyLeuPheAspAlaAsnAsnProLysMetLeuArgThrCysSerLeuProAspLeuSerLysLeuPheArgThrLeuMetAspValProThrValGlyAspValArgGlnAspAsnLeuGluIleAspGluIleGluAspGluAsnIleLysGluGlyProSerAspSerGluAspIleValPheGluGluThrAspThrAspLeuGlnGluLeuGlnAlaSerMetGluGlnLeuLeuArgGluGlnProGlyGluGluTyrSerGluGluGluGluSerValLeuLysAsnSerAspValGluProThrAlaAsnGlyThrAspValAlaAspGluAspAspAsnProSerSerGluSerAlaLeuAsnGluGluTrpHisSerAspAsnSerAspGlyGluIleAlaSerGluCysGluCysAspSerValPheAsnHisLeuGluGluLeuArgLeuHisLeuGluGlnGluMetGlyPheGluLysPhePheGluValTyrGluLysIleLysAlaIleHisGluAspGluAspGluAsnIleGluIleCysSerLysIleValGlnAsnIleLeuGlyAsnGluHisGlnHisLeuTyrAlaLysIleLeuHisLeuValMetAlaAspGlyAlaTyrGlnGluAspAsnAspGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727853" } ], "type": "nucleotide" }